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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 D P P K N P E V T T I T K D S M V V C W G H P D S D G G S E I I N Y I V E R R D K A G Q R W I K C N K K T L T D L R Y K V S G L T E G H E Y E F R I M A E N A A G I S A P S P T S P F Y K A C D T
P P D P P K N P E V T T I T K D S M V V C W G H P D S D G G S E I I N Y I V E R R D K A G Q R W I K C N K K T L T D L R Y K V S G L T E G H E Y E F R I M A E N A A G I S A P S P T S P F Y K A C D -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24222 1 P/R 1 None 0.5748 None gnomAD-4.0.0 1.91061E-06
24222 1 P/S 1 rs764364289 0.5748 None gnomAD-2.1.1 5.85E-06
24222 1 P/S 1 rs764364289 0.5748 None gnomAD-4.0.0 2.94393E-06
24223 2 P/S 2 rs760890661 0.1172 None gnomAD-3.1.2 1.97E-05
24223 2 P/S 2 rs760890661 0.1172 None gnomAD-4.0.0 2.6417E-06
24224 3 D/N 3 rs775487933 0.3986 None gnomAD-2.1.1 5.78E-06
24224 3 D/N 3 rs775487933 0.3986 None gnomAD-4.0.0 5.13683E-06
24225 4 P/L 4 rs55992239 0.3296 None gnomAD-2.1.1 8.85E-05
24225 4 P/L 4 rs55992239 0.3296 None gnomAD-3.1.2 1.05251E-04
24225 4 P/L 4 rs55992239 0.3296 None 1000 genomes 1.99681E-04
24225 4 P/L 4 rs55992239 0.3296 None gnomAD-4.0.0 1.7709E-04
24225 4 P/Q 4 None 0.3296 None gnomAD-4.0.0 7.34635E-07
24226 5 P/A 5 rs774958680 0.1043 None gnomAD-2.1.1 5.76E-06
24226 5 P/A 5 rs774958680 0.1043 None gnomAD-4.0.0 1.88468E-06
24227 6 K/Q 6 rs1333523637 0.4007 None gnomAD-2.1.1 3.19E-05
24227 6 K/Q 6 rs1333523637 0.4007 None gnomAD-3.1.2 6.58E-06
24227 6 K/Q 6 rs1333523637 0.4007 None gnomAD-4.0.0 2.92786E-06
24229 8 P/R 9 rs1708954278 0.1523 None gnomAD-3.1.2 6.58E-06
24230 9 E/A 11 rs771181715 0.7867 None gnomAD-2.1.1 5.72E-06
24230 9 E/A 11 rs771181715 0.7867 None gnomAD-4.0.0 1.87812E-06
24230 9 E/K 11 None 0.7867 None gnomAD-4.0.0 1.87826E-06
24231 10 V/L 12 None 0.1357 None gnomAD-4.0.0 7.32387E-07
24231 10 V/M 12 None 0.1357 None gnomAD-4.0.0 7.32387E-07
24233 12 T/A 14 None 0.6392 None gnomAD-4.0.0 7.31964E-07
24233 12 T/S 14 rs768359972 0.6392 None gnomAD-2.1.1 1.14E-05
24233 12 T/S 14 rs768359972 0.6392 None gnomAD-4.0.0 3.75315E-06
24234 13 I/T 15 rs939911271 0.2948 None gnomAD-2.1.1 5.71E-06
24234 13 I/T 15 rs939911271 0.2948 None gnomAD-3.1.2 6.58E-06
24234 13 I/T 15 rs939911271 0.2948 None gnomAD-4.0.0 2.91717E-06
24234 13 I/V 15 rs746673481 0.2948 None gnomAD-2.1.1 1.14E-05
24234 13 I/V 15 rs746673481 0.2948 None gnomAD-4.0.0 3.75198E-06
24235 14 T/I 16 rs1477680606 0.2440 None gnomAD-3.1.2 6.58E-06
24235 14 T/I 16 rs1477680606 0.2440 None gnomAD-4.0.0 1.97551E-06
24235 14 T/N 16 rs1477680606 0.2440 None gnomAD-3.1.2 6.58E-06
24236 15 K/I 17 None 0.4209 None gnomAD-4.0.0 3.65921E-06
24237 16 D/G 18 None 0.4733 None gnomAD-4.0.0 1.87392E-06
24237 16 D/N 18 None 0.4733 None gnomAD-4.0.0 7.31326E-07
24238 17 S/L 19 rs786205303 0.1306 None gnomAD-2.1.1 9.64E-06
24238 17 S/L 19 rs786205303 0.1306 None gnomAD-3.1.2 1.32E-05
24238 17 S/L 19 rs786205303 0.1306 None gnomAD-4.0.0 4.41065E-05
24239 18 M/K 20 rs750298083 0.0782 None gnomAD-2.1.1 5.31E-05
24239 18 M/K 20 rs750298083 0.0782 None gnomAD-3.1.2 4.6E-05
24239 18 M/K 20 rs750298083 0.0782 None gnomAD-4.0.0 9.60636E-05
24239 18 M/T 20 rs750298083 0.0782 None gnomAD-2.1.1 1.93E-05
24239 18 M/T 20 rs750298083 0.0782 None gnomAD-3.1.2 6.58E-06
24239 18 M/T 20 rs750298083 0.0782 None gnomAD-4.0.0 8.55362E-06
24240 19 V/A 21 None 0.1949 None gnomAD-4.0.0 1.86794E-06
24240 19 V/F 21 rs1345256615 0.1949 None gnomAD-2.1.1 5.69E-06
24240 19 V/F 21 rs1345256615 0.1949 None gnomAD-4.0.0 1.87268E-06
24240 19 V/I 21 rs1345256615 0.1949 None gnomAD-2.1.1 3.19E-05
24240 19 V/I 21 rs1345256615 0.1949 None gnomAD-3.1.2 6.58E-06
24241 20 V/I 22 rs756997225 0.0866 None gnomAD-2.1.1 5.68E-06
24242 21 C/S 23 None 0.2130 None gnomAD-4.0.0 1.86391E-06
24243 22 W/R 24 None 0.1182 None gnomAD-4.0.0 2.40064E-06
24244 23 G/R 25 rs1708937897 0.1950 None gnomAD-4.0.0 7.2976E-07
24245 24 H/Y 26 rs375467956 0.5766 None gnomAD-2.1.1 1.7E-05
24245 24 H/Y 26 rs375467956 0.5766 None gnomAD-3.1.2 6.58E-06
24245 24 H/Y 26 rs375467956 0.5766 None gnomAD-4.0.0 4.36722E-06
24247 26 D/G 28 rs1408225629 0.8796 None gnomAD-3.1.2 6.58E-06
24247 26 D/G 28 rs1408225629 0.8796 None gnomAD-4.0.0 2.89349E-06
24249 28 D/H 30 None 0.3148 None gnomAD-4.0.0 2.91475E-06
24249 28 D/V 30 rs760835469 0.3148 None gnomAD-2.1.1 5.56E-06
24249 28 D/V 30 rs760835469 0.3148 None gnomAD-4.0.0 1.85489E-06
24250 29 G/D 31 None 0.3836 None gnomAD-4.0.0 5.10264E-06
24250 29 G/R 31 None 0.3836 None gnomAD-4.0.0 1.85649E-06
24250 29 G/S 31 rs767460996 0.3836 None gnomAD-2.1.1 5.56E-06
24250 29 G/S 31 rs767460996 0.3836 None gnomAD-4.0.0 1.85649E-06
24251 30 G/R 32 None 0.6407 None gnomAD-4.0.0 7.28717E-07
24252 31 S/T 33 None 0.2357 None gnomAD-4.0.0 7.28603E-07
24254 33 I/N 35 None 0.1584 None gnomAD-4.0.0 1.85578E-06
24254 33 I/V 35 None 0.1584 None gnomAD-4.0.0 1.85602E-06
24255 34 I/V 36 None 0.3278 None gnomAD-4.0.0 1.20032E-06
24256 35 N/D 37 rs187868672 0.1575 None gnomAD-2.1.1 4.67105E-04
24256 35 N/D 37 rs187868672 0.1575 None gnomAD-3.1.2 2.03859E-04
24256 35 N/D 37 rs187868672 0.1575 None gnomAD-4.0.0 2.786E-04
24256 35 N/H 37 None 0.1575 None gnomAD-2.1.1 5.54E-06
24256 35 N/H 37 None 0.1575 None gnomAD-3.1.2 6.58E-06
24256 35 N/H 37 None 0.1575 None gnomAD-4.0.0 1.1144E-05
24256 35 N/S 37 None 0.1575 None gnomAD-4.0.0 2.40064E-06
24256 35 N/Y 37 rs187868672 0.1575 None gnomAD-2.1.1 5.54E-06
24256 35 N/Y 37 rs187868672 0.1575 None gnomAD-3.1.2 6.58E-06
24256 35 N/Y 37 rs187868672 0.1575 None gnomAD-4.0.0 1.96659E-06
24258 37 I/F 39 None 0.1622 None gnomAD-4.0.0 7.26417E-07
24258 37 I/T 39 rs773657520 0.1622 None gnomAD-2.1.1 5.45E-06
24258 37 I/T 39 rs773657520 0.1622 None gnomAD-4.0.0 3.67939E-06
24258 37 I/V 39 rs763561377 0.1622 None gnomAD-2.1.1 9.31E-06
24258 37 I/V 39 rs763561377 0.1622 None gnomAD-3.1.2 6.58E-06
24258 37 I/V 39 rs763561377 0.1622 None gnomAD-4.0.0 6.54155E-06
24259 38 V/L 40 None 0.0835 None gnomAD-4.0.0 1.20032E-06
24260 39 E/A 41 rs770306141 0.1268 None gnomAD-2.1.1 5.34E-06
24260 39 E/A 41 rs770306141 0.1268 None gnomAD-3.1.2 6.58E-06
24260 39 E/A 41 rs770306141 0.1268 None gnomAD-4.0.0 6.57514E-06
24261 40 R/Q 42 rs142874389 0.2994 None gnomAD-2.1.1 6.74063E-04
24261 40 R/Q 42 rs142874389 0.2994 None gnomAD-3.1.2 1.31591E-03
24261 40 R/Q 42 rs142874389 0.2994 None 1000 genomes 1.39776E-03
24261 40 R/Q 42 rs142874389 0.2994 None gnomAD-4.0.0 3.25543E-04
24261 40 R/W 42 rs1275789320 0.2994 None gnomAD-2.1.1 5.33E-06
24261 40 R/W 42 rs1275789320 0.2994 None gnomAD-4.0.0 9.40199E-06
24262 41 R/C 43 rs576976296 0.2666 None gnomAD-2.1.1 1.82E-05
24262 41 R/C 43 rs576976296 0.2666 None gnomAD-3.1.2 1.32E-05
24262 41 R/C 43 rs576976296 0.2666 None 1000 genomes 1.99681E-04
24262 41 R/C 43 rs576976296 0.2666 None gnomAD-4.0.0 4.5562E-06
24262 41 R/H 43 rs372390659 0.2666 None gnomAD-2.1.1 4.09E-05
24262 41 R/H 43 rs372390659 0.2666 None gnomAD-3.1.2 1.97E-05
24262 41 R/H 43 rs372390659 0.2666 None 1000 genomes 1.99681E-04
24262 41 R/H 43 rs372390659 0.2666 None gnomAD-4.0.0 2.7327E-05
24262 41 R/S 43 None 0.2666 None gnomAD-4.0.0 7.2233E-07
24264 43 K/I 50 rs745449959 0.3969 None gnomAD-2.1.1 5.17E-06
24264 43 K/I 50 rs745449959 0.3969 None gnomAD-4.0.0 7.18776E-07
24265 44 A/S 54 None 0.6862 None gnomAD-4.0.0 1.787E-06
24266 45 G/D 60 None 0.3059 None gnomAD-4.0.0 3.54643E-06
24267 46 Q/H 63 None 0.9860 None gnomAD-4.0.0 7.14629E-07
24267 46 Q/R 63 rs1708915937 0.9860 None gnomAD-3.1.2 6.57E-06
24267 46 Q/R 63 rs1708915937 0.9860 None gnomAD-4.0.0 6.57333E-06
24268 47 R/C 64 rs370474301 0.7993 None gnomAD-2.1.1 1.39115E-04
24268 47 R/C 64 rs370474301 0.7993 None gnomAD-3.1.2 9.87E-05
24268 47 R/C 64 rs370474301 0.7993 None gnomAD-4.0.0 7.66042E-05
24268 47 R/H 64 rs140018785 0.7993 None gnomAD-2.1.1 3.52233E-04
24268 47 R/H 64 rs140018785 0.7993 None gnomAD-3.1.2 7.23E-05
24268 47 R/H 64 rs140018785 0.7993 None 1000 genomes 9.98403E-04
24268 47 R/H 64 rs140018785 0.7993 None gnomAD-4.0.0 2.19458E-04
24269 48 W/G 65 rs879125672 0.2120 None gnomAD-2.1.1 5.05E-06
24269 48 W/G 65 rs879125672 0.2120 None gnomAD-4.0.0 1.75989E-06
24270 49 I/T 66 None 0.4066 None gnomAD-4.0.0 7.08956E-07
24272 51 C/F 68 None 0.1542 None gnomAD-4.0.0 1.71883E-06
24272 51 C/G 68 rs1559424305 0.1542 None gnomAD-2.1.1 4.75E-06
24272 51 C/G 68 rs1559424305 0.1542 None gnomAD-4.0.0 1.71687E-06
24272 51 C/Y 68 rs377121903 0.1542 None gnomAD-2.1.1 4.77E-06
24273 52 N/H 69 None 0.1343 None gnomAD-4.0.0 1.70312E-06
24273 52 N/S 69 None 0.1343 None gnomAD-4.0.0 6.33644E-06
24275 54 K/I 72 rs199860952 0.9168 None gnomAD-2.1.1 4.57E-05
24275 54 K/I 72 rs199860952 0.9168 None gnomAD-3.1.2 6.57E-05
24275 54 K/I 72 rs199860952 0.9168 None gnomAD-4.0.0 1.2624E-04
24276 55 T/A 75 rs373204984 0.7341 None gnomAD-4.0.0 1.40347E-06
24276 55 T/P 75 None 0.7341 None gnomAD-4.0.0 7.01733E-07
24276 55 T/S 75 rs373204984 0.7341 None gnomAD-2.1.1 5.98E-05
24276 55 T/S 75 rs373204984 0.7341 None gnomAD-3.1.2 8.55E-05
24276 55 T/S 75 rs373204984 0.7341 None gnomAD-4.0.0 1.39491E-04
24278 57 T/I 83 None 0.5701 None gnomAD-4.0.0 6.99078E-07
24279 58 D/E 88 None 0.6255 None gnomAD-4.0.0 1.20032E-06
24279 58 D/G 88 rs974475286 0.6255 None gnomAD-2.1.1 8.84E-06
24279 58 D/G 88 rs974475286 0.6255 None gnomAD-4.0.0 5.00913E-06
24279 58 D/H 88 None 0.6255 None gnomAD-4.0.0 3.34E-06
24280 59 L/F 89 None 0.1757 None gnomAD-4.0.0 1.65939E-06
24282 61 Y/H 91 rs369711272 0.2138 None gnomAD-2.1.1 1.74E-05
24282 61 Y/H 91 rs369711272 0.2138 None gnomAD-3.1.2 6.57E-06
24282 61 Y/H 91 rs369711272 0.2138 None gnomAD-4.0.0 8.80585E-06
24283 62 K/N 92 None 0.4560 None gnomAD-4.0.0 1.64151E-06
24284 63 V/L 93 rs755011962 0.1166 None gnomAD-2.1.1 4.27E-06
24284 63 V/L 93 rs755011962 0.1166 None gnomAD-4.0.0 1.6398E-06
24285 64 S/F 94 None 0.4940 None gnomAD-4.0.0 6.9043E-07
24286 65 G/R 96 rs1198682781 0.5153 None gnomAD-2.1.1 4.18E-06
24286 65 G/R 96 rs1198682781 0.5153 None gnomAD-4.0.0 1.38034E-06
24286 65 G/V 96 None 0.5153 None gnomAD-4.0.0 1.62324E-06
24288 67 T/A 98 None 0.3871 None gnomAD-4.0.0 1.61366E-06
24288 67 T/R 98 rs878997916 0.3871 None gnomAD-3.1.2 6.58E-06
24288 67 T/R 98 rs878997916 0.3871 None gnomAD-4.0.0 1.86923E-06
24290 69 G/E 100 rs1304384759 0.3171 None gnomAD-3.1.2 1.31E-05
24290 69 G/E 100 rs1304384759 0.3171 None gnomAD-4.0.0 3.88335E-06
24290 69 G/R 100 rs1024961148 0.3171 None gnomAD-2.1.1 4.12E-06
24290 69 G/R 100 rs1024961148 0.3171 None gnomAD-4.0.0 2.40064E-06
24291 70 H/R 102 None 0.4024 None gnomAD-4.0.0 2.06386E-06
24291 70 H/Y 102 None 0.4024 None gnomAD-4.0.0 1.61157E-06
24293 72 Y/C 104 None 0.0945 None gnomAD-4.0.0 2.75087E-06
24294 73 E/A 105 rs766386367 0.0810 None gnomAD-2.1.1 2.06E-05
24294 73 E/A 105 rs766386367 0.0810 None gnomAD-4.0.0 8.05065E-06
24294 73 E/K 105 rs1708891748 0.0810 None gnomAD-4.0.0 6.87736E-07
24296 75 R/G 107 None 0.1561 None gnomAD-4.0.0 6.87461E-07
24298 77 M/I 109 None 0.1494 None gnomAD-4.0.0 1.20032E-06
24299 78 A/T 110 rs1708888028 0.0769 None gnomAD-4.0.0 3.21905E-06
24299 78 A/V 110 rs763506215 0.0769 None gnomAD-2.1.1 4.1E-06
24299 78 A/V 110 rs763506215 0.0769 None gnomAD-4.0.0 1.20032E-06
24300 79 E/D 111 rs1222244205 0.2687 None gnomAD-2.1.1 4.1E-06
24300 79 E/D 111 rs1222244205 0.2687 None gnomAD-4.0.0 1.60856E-06
24301 80 N/S 112 rs1380734322 0.0984 None gnomAD-3.1.2 6.57E-06
24301 80 N/S 112 rs1380734322 0.0984 None gnomAD-4.0.0 4.35736E-06
24301 80 N/T 112 None 0.0984 None gnomAD-4.0.0 6.87595E-07
24304 83 G/E 115 rs375958762 0.2054 None gnomAD-4.0.0 6.87582E-07
24305 84 I/S 117 None 0.5016 None gnomAD-4.0.0 1.60834E-06
24306 85 S/T 118 rs762318997 0.1181 None gnomAD-2.1.1 4.1E-06
24306 85 S/T 118 rs762318997 0.1181 None gnomAD-4.0.0 1.60921E-06
24307 86 A/T 119 rs774999975 0.3749 None gnomAD-3.1.2 6.57E-06
24307 86 A/T 119 rs774999975 0.3749 None gnomAD-4.0.0 6.57454E-06
24308 87 P/A 120 rs1334601287 0.3861 None gnomAD-2.1.1 4.1E-06
24308 87 P/A 120 rs1334601287 0.3861 None gnomAD-4.0.0 1.60722E-06
24308 87 P/R 120 rs1553608507 0.3861 None gnomAD-4.0.0 1.37444E-06
24311 90 T/A 123 rs56201325 0.3892 None gnomAD-2.1.1 4.04628E-03
24311 90 T/A 123 rs56201325 0.3892 None gnomAD-3.1.2 3.44479E-03
24311 90 T/A 123 rs56201325 0.3892 None 1000 genomes 7.98722E-04
24311 90 T/A 123 rs56201325 0.3892 None gnomAD-4.0.0 4.24777E-03
24311 90 T/N 123 None 0.3892 None gnomAD-4.0.0 1.20032E-06
24311 90 T/P 123 None 0.3892 None gnomAD-4.0.0 6.86634E-07
24313 92 P/L 125 None 0.4760 None gnomAD-4.0.0 6.1816E-06
24313 92 P/T 125 rs1306961227 0.4760 None gnomAD-2.1.1 3.19E-05
24313 92 P/T 125 rs1306961227 0.4760 None gnomAD-3.1.2 6.58E-06
24313 92 P/T 125 rs1306961227 0.4760 None gnomAD-4.0.0 6.57575E-06
24315 94 Y/H 127 rs794729492 0.2587 None gnomAD-2.1.1 4.07E-06
24315 94 Y/H 127 rs794729492 0.2587 None gnomAD-3.1.2 6.57E-06
24315 94 Y/H 127 rs794729492 0.2587 None gnomAD-4.0.0 2.48403E-06
24316 95 K/E 129 rs745520420 0.5535 None gnomAD-2.1.1 4.07E-06
24316 95 K/E 129 rs745520420 0.5535 None gnomAD-3.1.2 6.57E-06
24316 95 K/E 129 rs745520420 0.5535 None gnomAD-4.0.0 2.4838E-06
24317 96 A/S 130 None 0.1001 None gnomAD-4.0.0 6.85655E-07
24317 96 A/T 130 rs770455724 0.1001 None gnomAD-2.1.1 3.66E-05
24317 96 A/T 130 rs770455724 0.1001 None gnomAD-4.0.0 8.22786E-06
24317 96 A/V 130 None 0.1001 None gnomAD-4.0.0 1.59725E-06
24318 97 C/R 131 rs1443412363 0.4638 None gnomAD-2.1.1 4.06E-06
24318 97 C/R 131 rs1443412363 0.4638 None gnomAD-4.0.0 2.74149E-06
24319 98 D/G 132 None 0.6615 None gnomAD-4.0.0 1.20032E-06
24319 98 D/N 132 rs1241907204 0.6615 None gnomAD-2.1.1 4.05E-06
24319 98 D/N 132 rs1241907204 0.6615 None gnomAD-4.0.0 1.597E-06