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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P P S P P L D L H V T D A G R K H I A I A W K P P E K N G G S P I I G Y H V E M C P V G T E K W M R V N S R P I K D L K F K V E E G V V P D K E Y V L R V R A V N A I G V S E P S E I S E N V V A K D P D C K P T I D L E T H D I I V I E G E K L S I P V P F R A V P V P T V S W H K D G K E V K A S D R L T M K N D H I S A H L E V P K S V R A D A G I Y T I T L E N K L G S A T A S I N V K V I
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P T I D L E T H D I I V I E G E K L S I P V P F R A V P V P T V S W H K D G K E V K A S D R L T M K N D H I S A H L E V P K S V R A D A G I Y T I T L E N K L G S A T A S I N V K V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16955 1 P/A 1 None 0.1226 None gnomAD-4.0.0 6.85007E-07
16955 1 P/T 1 rs757101775 0.1226 None gnomAD-2.1.1 4.06E-06
16955 1 P/T 1 rs757101775 0.1226 None gnomAD-4.0.0 1.37001E-06
16956 2 T/A 2 rs1250320003 0.5265 None gnomAD-3.1.2 6.58E-06
16956 2 T/A 2 rs1250320003 0.5265 None gnomAD-4.0.0 1.30271E-05
16956 2 T/I 2 rs1040561744 0.5265 None gnomAD-2.1.1 1.22E-05
16956 2 T/I 2 rs1040561744 0.5265 None gnomAD-4.0.0 2.05468E-06
16956 2 T/K 2 rs1040561744 0.5265 None gnomAD-2.1.1 4.05E-06
16956 2 T/K 2 rs1040561744 0.5265 None gnomAD-3.1.2 6.58E-06
16956 2 T/K 2 rs1040561744 0.5265 None gnomAD-4.0.0 3.10166E-06
16956 2 T/S 2 rs1250320003 0.5265 None gnomAD-2.1.1 4.06E-06
16956 2 T/S 2 rs1250320003 0.5265 None gnomAD-4.0.0 6.84915E-07
16957 3 I/F 3 rs372013419 0.2396 None gnomAD-2.1.1 4.05E-06
16957 3 I/F 3 rs372013419 0.2396 None gnomAD-3.1.2 6.58E-06
16957 3 I/F 3 rs372013419 0.2396 None gnomAD-4.0.0 1.24066E-06
16957 3 I/N 3 rs368450275 0.2396 None gnomAD-2.1.1 4.05E-06
16957 3 I/T 3 rs368450275 0.2396 None gnomAD-2.1.1 2.84E-05
16957 3 I/T 3 rs368450275 0.2396 None gnomAD-3.1.2 1.32E-05
16957 3 I/T 3 rs368450275 0.2396 None gnomAD-4.0.0 9.92491E-06
16957 3 I/V 3 rs372013419 0.2396 None gnomAD-2.1.1 1.62E-05
16957 3 I/V 3 rs372013419 0.2396 None gnomAD-3.1.2 6.58E-06
16957 3 I/V 3 rs372013419 0.2396 None gnomAD-4.0.0 1.79895E-05
16958 4 D/E 4 None 0.7652 None gnomAD-4.0.0 1.59477E-06
16958 4 D/V 4 None 0.7652 None gnomAD-4.0.0 1.20032E-06
16960 6 E/K 7 None 1.0351 None gnomAD-4.0.0 6.84804E-07
16960 6 E/Q 7 rs1210274436 1.0351 None gnomAD-2.1.1 4.05E-06
16960 6 E/Q 7 rs1210274436 1.0351 None gnomAD-4.0.0 6.84804E-07
16961 7 T/A 8 None 0.7192 None gnomAD-4.0.0 1.20032E-06
16962 8 H/R 9 None 0.8580 None gnomAD-4.0.0 2.05429E-06
16962 8 H/Y 9 None 0.8580 None gnomAD-4.0.0 3.18884E-06
16963 9 D/E 11 None 0.5414 None gnomAD-4.0.0 2.05424E-06
16963 9 D/N 11 rs760115243 0.5414 None gnomAD-2.1.1 4.05E-06
16963 9 D/N 11 rs760115243 0.5414 None gnomAD-4.0.0 1.36954E-06
16963 9 D/V 11 rs775055815 0.5414 None gnomAD-2.1.1 4.04E-05
16963 9 D/V 11 rs775055815 0.5414 None gnomAD-3.1.2 1.32E-05
16963 9 D/V 11 rs775055815 0.5414 None gnomAD-4.0.0 1.30245E-05
16963 9 D/Y 11 rs760115243 0.5414 None gnomAD-2.1.1 4.05E-05
16963 9 D/Y 11 rs760115243 0.5414 None gnomAD-3.1.2 1.32E-05
16963 9 D/Y 11 rs760115243 0.5414 None gnomAD-4.0.0 1.36453E-05
16964 10 I/T 13 rs794729453 0.2817 None gnomAD-2.1.1 4.04E-06
16964 10 I/T 13 rs794729453 0.2817 None gnomAD-4.0.0 8.21683E-06
16964 10 I/V 13 rs1487972631 0.2817 None gnomAD-4.0.0 1.20032E-06
16965 11 I/M 14 None 0.6212 None gnomAD-4.0.0 1.20032E-06
16966 12 V/G 16 None 0.1399 None gnomAD-4.0.0 1.59394E-06
16966 12 V/I 16 None 0.1399 None gnomAD-4.0.0 1.20032E-06
16967 13 I/T 18 rs763447020 0.4931 None gnomAD-2.1.1 4.04E-06
16967 13 I/T 18 rs763447020 0.4931 None gnomAD-4.0.0 4.10821E-06
16969 15 G/R 24 rs878854314 0.2905 None gnomAD-2.1.1 1.21E-05
16969 15 G/R 24 rs878854314 0.2905 None gnomAD-4.0.0 1.15473E-05
16969 15 G/S 24 rs878854314 0.2905 None gnomAD-4.0.0 3.18789E-06
16969 15 G/V 24 None 0.2905 None gnomAD-4.0.0 3.42351E-06
16970 16 E/K 25 rs1351961700 0.3967 None gnomAD-2.1.1 4.04E-06
16971 17 K/N 26 None 0.3903 None gnomAD-4.0.0 1.59383E-06
16973 19 S/G 29 rs943563172 0.3842 None gnomAD-4.0.0 2.40064E-06
16973 19 S/N 29 None 0.3842 None gnomAD-4.0.0 6.84671E-07
16974 20 I/L 30 rs768142416 0.1202 None gnomAD-2.1.1 8.07E-06
16974 20 I/L 30 rs768142416 0.1202 None gnomAD-3.1.2 6.58E-06
16974 20 I/L 30 rs768142416 0.1202 None gnomAD-4.0.0 3.10063E-06
16974 20 I/V 30 rs768142416 0.1202 None gnomAD-2.1.1 1.21E-05
16974 20 I/V 30 rs768142416 0.1202 None gnomAD-4.0.0 6.16198E-06
16975 21 P/S 31 None 0.5194 None gnomAD-4.0.0 1.20032E-06
16978 24 F/C 35 rs1173795392 0.1090 None gnomAD-2.1.1 4.03E-06
16978 24 F/C 35 rs1173795392 0.1090 None gnomAD-4.0.0 1.59343E-06
16978 24 F/L 35 rs1417308681 0.1090 None gnomAD-3.1.2 6.58E-06
16978 24 F/L 35 rs1417308681 0.1090 None gnomAD-4.0.0 3.84847E-06
16978 24 F/Y 35 rs1173795392 0.1090 None gnomAD-2.1.1 4.03E-06
16978 24 F/Y 35 rs1173795392 0.1090 None gnomAD-4.0.0 1.59343E-06
16979 25 R/G 38 rs1559776809 0.8012 None gnomAD-4.0.0 3.18681E-06
16979 25 R/K 38 None 0.8012 None gnomAD-4.0.0 2.40064E-06
16979 25 R/S 38 None 0.8012 None gnomAD-4.0.0 6.84606E-07
16980 26 A/T 40 None 0.1233 None gnomAD-4.0.0 3.1869E-06
16980 26 A/V 40 None 0.1233 None gnomAD-4.0.0 1.59345E-06
16981 27 V/A 41 rs1323997384 0.1346 None gnomAD-3.1.2 6.58E-06
16981 27 V/A 41 rs1323997384 0.1346 None gnomAD-4.0.0 6.58025E-06
16982 28 P/R 42 rs1402845968 0.3272 None gnomAD-2.1.1 3.19E-05
16982 28 P/R 42 rs1402845968 0.3272 None gnomAD-3.1.2 6.58E-06
16982 28 P/R 42 rs1402845968 0.3272 None gnomAD-4.0.0 6.58276E-06
16982 28 P/S 42 rs1178993608 0.3272 None gnomAD-2.1.1 3.19E-05
16982 28 P/S 42 rs1178993608 0.3272 None gnomAD-3.1.2 6.59E-06
16982 28 P/S 42 rs1178993608 0.3272 None gnomAD-4.0.0 3.84918E-06
16985 31 T/A 45 None 0.6342 None gnomAD-4.0.0 2.73844E-06
16985 31 T/I 45 rs116765281 0.6342 None gnomAD-2.1.1 5.73E-05
16985 31 T/I 45 rs116765281 0.6342 None gnomAD-3.1.2 4.61E-05
16985 31 T/I 45 rs116765281 0.6342 None 1000 genomes 1.99681E-04
16985 31 T/I 45 rs116765281 0.6342 None gnomAD-4.0.0 1.30214E-04
16985 31 T/P 45 rs1301584675 0.6342 None gnomAD-3.1.2 1.32E-05
16985 31 T/P 45 rs1301584675 0.6342 None gnomAD-4.0.0 1.31619E-05
16985 31 T/S 45 rs1301584675 0.6342 None gnomAD-4.0.0 6.84609E-07
16987 33 S/R 47 rs532794938 0.3172 None gnomAD-2.1.1 8.06E-06
16987 33 S/R 47 rs532794938 0.3172 None gnomAD-3.1.2 3.95E-05
16987 33 S/R 47 rs532794938 0.3172 None 1000 genomes 1.99681E-04
16987 33 S/R 47 rs532794938 0.3172 None gnomAD-4.0.0 8.68048E-06
16988 34 W/C 48 rs1252820791 0.1622 None gnomAD-2.1.1 2.15E-05
16988 34 W/C 48 rs1252820791 0.1622 None gnomAD-3.1.2 6.58E-06
16988 34 W/C 48 rs1252820791 0.1622 None gnomAD-4.0.0 6.41465E-06
16988 34 W/S 48 rs1473745606 0.1622 None gnomAD-2.1.1 4.03E-06
16988 34 W/S 48 rs1473745606 0.1622 None gnomAD-4.0.0 1.59337E-06
16989 35 H/L 49 rs2056241727 0.3193 None gnomAD-3.1.2 6.58E-06
16989 35 H/L 49 rs2056241727 0.3193 None gnomAD-4.0.0 6.57886E-06
16989 35 H/Q 49 rs1187588369 0.3193 None gnomAD-2.1.1 4.03E-06
16989 35 H/Q 49 rs1187588369 0.3193 None gnomAD-4.0.0 1.5934E-06
16991 37 D/E 51 rs968016218 0.5048 None gnomAD-3.1.2 6.58E-06
16991 37 D/E 51 rs968016218 0.5048 None gnomAD-4.0.0 7.441E-06
16991 37 D/G 51 rs745796006 0.5048 None gnomAD-2.1.1 4.03E-06
16991 37 D/G 51 rs745796006 0.5048 None gnomAD-4.0.0 1.59338E-06
16991 37 D/Y 51 None 0.5048 None gnomAD-4.0.0 1.59338E-06
16992 38 G/V 52 rs1280875443 0.5065 None gnomAD-2.1.1 4.03E-06
16992 38 G/V 52 rs1280875443 0.5065 None gnomAD-4.0.0 1.5934E-06
16994 40 E/D 56 rs1230487887 0.6151 None gnomAD-3.1.2 6.58E-06
16994 40 E/D 56 rs1230487887 0.6151 None gnomAD-4.0.0 6.57999E-06
16995 41 V/F 58 rs187763563 0.2492 None gnomAD-3.1.2 6.58E-06
16995 41 V/F 58 rs187763563 0.2492 None 1000 genomes 1.99681E-04
16995 41 V/F 58 rs187763563 0.2492 None gnomAD-4.0.0 6.5754E-06
16995 41 V/I 58 rs187763563 0.2492 None gnomAD-2.1.1 1.61E-05
16995 41 V/I 58 rs187763563 0.2492 None gnomAD-3.1.2 3.29E-05
16995 41 V/I 58 rs187763563 0.2492 None gnomAD-4.0.0 2.10827E-05
16997 43 A/V 70 rs757016012 0.5286 None gnomAD-2.1.1 1.21E-05
16997 43 A/V 70 rs757016012 0.5286 None gnomAD-4.0.0 4.77973E-06
16998 44 S/N 73 rs749043514 0.3381 None gnomAD-2.1.1 1.21E-05
16998 44 S/N 73 rs749043514 0.3381 None gnomAD-3.1.2 1.32E-05
16998 44 S/N 73 rs749043514 0.3381 None gnomAD-4.0.0 8.97889E-06
16999 45 D/E 109 None 1.1730 None gnomAD-4.0.0 6.84573E-07
16999 45 D/G 109 rs1576414391 1.1730 None gnomAD-4.0.0 1.36915E-06
16999 45 D/V 109 None 1.1730 None gnomAD-4.0.0 6.84573E-07
17000 46 R/G 115 rs1488377419 0.5441 None gnomAD-3.1.2 6.58E-06
17000 46 R/G 115 rs1488377419 0.5441 None gnomAD-4.0.0 6.5799E-06
17000 46 R/K 115 rs767481574 0.5441 None gnomAD-2.1.1 2.01E-05
17000 46 R/K 115 rs767481574 0.5441 None gnomAD-3.1.2 6.58E-06
17000 46 R/K 115 rs767481574 0.5441 None gnomAD-4.0.0 5.14654E-05
17000 46 R/S 115 None 0.5441 None gnomAD-4.0.0 1.5932E-06
17000 46 R/T 115 rs767481574 0.5441 None gnomAD-2.1.1 4.03E-06
17000 46 R/T 115 rs767481574 0.5441 None gnomAD-4.0.0 2.73829E-06
17001 47 L/F 121 None 0.2058 None gnomAD-4.0.0 1.20032E-06
17003 49 M/I 123 None 0.2885 None gnomAD-4.0.0 1.20032E-06
17003 49 M/R 123 rs960842817 0.2885 None gnomAD-2.1.1 4.03E-06
17003 49 M/R 123 rs960842817 0.2885 None gnomAD-3.1.2 1.32E-05
17003 49 M/R 123 rs960842817 0.2885 None gnomAD-4.0.0 1.67419E-05
17003 49 M/V 123 rs988593796 0.2885 None gnomAD-2.1.1 8.05E-06
17003 49 M/V 123 rs988593796 0.2885 None gnomAD-4.0.0 3.42289E-06
17004 50 K/N 125 rs755153359 0.7839 None gnomAD-2.1.1 8.05E-06
17004 50 K/N 125 rs755153359 0.7839 None gnomAD-4.0.0 9.55907E-06
17005 51 N/K 127 rs752077995 0.5345 None gnomAD-4.0.0 2.73825E-06
17006 52 D/V 130 None 0.3207 None gnomAD-4.0.0 1.20032E-06
17007 53 H/R 131 None 0.5851 None gnomAD-4.0.0 1.59322E-06
17008 54 I/V 134 None 0.4539 None gnomAD-4.0.0 1.20032E-06
17009 55 S/P 135 None 0.1117 None gnomAD-4.0.0 2.05369E-06
17010 56 A/V 136 rs1164633775 0.0860 None gnomAD-2.1.1 4.03E-06
17010 56 A/V 136 rs1164633775 0.0860 None gnomAD-4.0.0 1.59323E-06
17011 57 H/N 137 rs1471950857 0.4284 None gnomAD-2.1.1 4.03E-06
17011 57 H/N 137 rs1471950857 0.4284 None gnomAD-4.0.0 1.59326E-06
17012 58 L/P 138 None 0.1123 None gnomAD-4.0.0 1.20032E-06
17015 61 P/L 141 None 0.4217 None gnomAD-4.0.0 1.59324E-06
17017 63 S/G 144 rs766949350 0.1012 None gnomAD-2.1.1 4.02E-06
17017 63 S/G 144 rs766949350 0.1012 None gnomAD-3.1.2 6.58E-06
17017 63 S/G 144 rs766949350 0.1012 None gnomAD-4.0.0 3.84787E-06
17017 63 S/R 144 rs1246257248 0.1012 None gnomAD-4.0.0 6.8457E-07
17018 64 V/A 145 None 0.2979 None gnomAD-4.0.0 1.59322E-06
17019 65 R/C 146 rs773394284 0.8700 None gnomAD-2.1.1 3.62E-05
17019 65 R/C 146 rs773394284 0.8700 None gnomAD-3.1.2 1.32E-05
17019 65 R/C 146 rs773394284 0.8700 None gnomAD-4.0.0 1.7363E-05
17019 65 R/H 146 rs765642042 0.8700 None gnomAD-2.1.1 1.61E-05
17019 65 R/H 146 rs765642042 0.8700 None gnomAD-3.1.2 6.58E-06
17019 65 R/H 146 rs765642042 0.8700 None gnomAD-4.0.0 1.17816E-05
17020 66 A/S 148 rs1232414991 0.4817 None gnomAD-2.1.1 4.02E-06
17020 66 A/S 148 rs1232414991 0.4817 None gnomAD-4.0.0 1.5933E-06
17020 66 A/T 148 None 0.4817 None gnomAD-4.0.0 1.5933E-06
17021 67 D/E 149 rs760244297 0.2108 None gnomAD-2.1.1 3.22E-05
17021 67 D/E 149 rs760244297 0.2108 None gnomAD-3.1.2 2.63E-05
17021 67 D/E 149 rs760244297 0.2108 None gnomAD-4.0.0 1.67418E-05
17021 67 D/G 149 rs1353851775 0.2108 None gnomAD-2.1.1 4.02E-06
17021 67 D/G 149 rs1353851775 0.2108 None gnomAD-4.0.0 6.84576E-07
17021 67 D/V 149 None 0.2108 None gnomAD-4.0.0 1.36915E-06
17022 68 A/D 151 rs372419267 0.2185 None gnomAD-4.0.0 8.215E-06
17022 68 A/V 151 rs372419267 0.2185 None gnomAD-2.1.1 1.07213E-04
17022 68 A/V 151 rs372419267 0.2185 None gnomAD-3.1.2 4.14632E-04
17022 68 A/V 151 rs372419267 0.2185 None gnomAD-4.0.0 6.94444E-05
17023 69 G/A 152 None 0.1677 None gnomAD-4.0.0 1.36917E-06
17023 69 G/R 152 rs745424139 0.1677 None gnomAD-2.1.1 1.21E-05
17023 69 G/R 152 rs745424139 0.1677 None gnomAD-3.1.2 1.97E-05
17023 69 G/R 152 rs745424139 0.1677 None gnomAD-4.0.0 6.84587E-07
17023 69 G/V 152 rs2056219937 0.1677 None gnomAD-4.0.0 2.05376E-06
17024 70 I/S 153 rs1389981053 0.5620 None gnomAD-2.1.1 4.02E-06
17024 70 I/S 153 rs1389981053 0.5620 None gnomAD-4.0.0 3.18653E-06
17025 71 Y/C 154 None 0.1518 None gnomAD-4.0.0 1.20032E-06
17027 73 I/F 156 rs770809063 0.0847 None gnomAD-2.1.1 1.07E-05
17027 73 I/F 156 rs770809063 0.0847 None gnomAD-3.1.2 1.97E-05
17027 73 I/F 156 rs770809063 0.0847 None gnomAD-4.0.0 6.41386E-06
17028 74 T/I 157 rs1403894865 0.2782 None gnomAD-2.1.1 4.02E-06
17029 75 L/R 158 None 0.1011 None gnomAD-4.0.0 2.40064E-06
17029 75 L/V 158 None 0.1011 None gnomAD-4.0.0 1.20032E-06
17031 77 N/D 161 rs886044006 0.1182 None gnomAD-4.0.0 2.40064E-06
17031 77 N/K 161 None 0.1182 None gnomAD-4.0.0 6.8467E-07
17031 77 N/S 161 rs749251609 0.1182 None gnomAD-2.1.1 1.21E-05
17031 77 N/S 161 rs749251609 0.1182 None gnomAD-3.1.2 6.58E-06
17031 77 N/S 161 rs749251609 0.1182 None gnomAD-4.0.0 3.8488E-06
17032 78 K/N 162 rs777424760 0.5202 None gnomAD-2.1.1 4.03E-06
17032 78 K/N 162 rs777424760 0.5202 None gnomAD-4.0.0 3.18746E-06
17032 78 K/R 162 None 0.5202 None gnomAD-4.0.0 4.80129E-06
17033 79 L/V 163 None 0.4042 None gnomAD-4.0.0 1.59379E-06
17034 80 G/S 164 rs886042475 0.2437 None gnomAD-2.1.1 2.01E-05
17034 80 G/S 164 rs886042475 0.2437 None gnomAD-3.1.2 1.32E-05
17034 80 G/S 164 rs886042475 0.2437 None gnomAD-4.0.0 1.17834E-05
17034 80 G/V 164 None 0.2437 None gnomAD-4.0.0 6.84695E-07
17035 81 S/P 165 None 0.5509 None gnomAD-4.0.0 1.59388E-06
17036 82 A/P 166 rs541142672 0.1816 None gnomAD-3.1.2 6.58E-06
17036 82 A/P 166 rs541142672 0.1816 None gnomAD-4.0.0 2.56628E-06
17037 83 T/K 168 None 0.6279 None gnomAD-4.0.0 1.594E-06
17039 85 S/T 171 None 0.4220 None gnomAD-4.0.0 1.20032E-06
17040 86 I/M 172 rs1215488177 0.1624 None gnomAD-3.1.2 6.58E-06
17040 86 I/M 172 rs1215488177 0.1624 None gnomAD-4.0.0 6.57981E-06
17040 86 I/V 172 rs727505039 0.1624 None gnomAD-2.1.1 1.61E-05
17040 86 I/V 172 rs727505039 0.1624 None gnomAD-4.0.0 4.79342E-06
17041 87 N/D 173 rs751639212 0.3301 None gnomAD-2.1.1 4.03E-06
17041 87 N/D 173 rs751639212 0.3301 None gnomAD-4.0.0 5.4792E-06
17041 87 N/S 173 rs774659339 0.3301 None gnomAD-3.1.2 6.58E-06
17041 87 N/S 173 rs774659339 0.3301 None gnomAD-4.0.0 1.11656E-05
17041 87 N/Y 173 rs751639212 0.3301 None gnomAD-3.1.2 6.58E-06
17041 87 N/Y 173 rs751639212 0.3301 None gnomAD-4.0.0 6.57947E-06
17043 89 K/Q 175 rs794729269 0.4226 None gnomAD-4.0.0 4.10937E-06
17043 89 K/R 175 rs758910983 0.4226 None gnomAD-2.1.1 8.07E-06
17043 89 K/R 175 rs758910983 0.4226 None gnomAD-4.0.0 2.73967E-06