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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14144 3 F/I 3 rs1359996660 0.2112 None gnomAD-2.1.1 4.04E-06
14144 3 F/I 3 rs1359996660 0.2112 None gnomAD-4.0.0 1.59352E-06
14145 4 M/T 4 rs794729427 0.3548 None gnomAD-2.1.1 1.07E-05
14145 4 M/T 4 rs794729427 0.3548 None gnomAD-3.1.2 3.29E-05
14145 4 M/T 4 rs794729427 0.3548 None gnomAD-4.0.0 1.17803E-05
14145 4 M/V 4 rs763513073 0.3548 None gnomAD-2.1.1 1.62E-05
14145 4 M/V 4 rs763513073 0.3548 None gnomAD-3.1.2 6.58E-06
14145 4 M/V 4 rs763513073 0.3548 None gnomAD-4.0.0 6.82031E-06
14146 5 S/L 5 rs760628135 0.2410 None gnomAD-2.1.1 4.04E-06
14146 5 S/L 5 rs760628135 0.2410 None gnomAD-4.0.0 1.59317E-06
14147 6 P/R 7 None 0.4030 None gnomAD-4.0.0 6.84534E-07
14147 6 P/T 7 None 0.4030 None gnomAD-4.0.0 3.18598E-06
14149 8 E/K 9 None 0.8162 None gnomAD-4.0.0 1.36901E-06
14149 8 E/Q 9 None 0.8162 None gnomAD-4.0.0 6.84507E-07
14150 9 D/N 11 rs1184338421 0.5145 None gnomAD-2.1.1 3.19E-05
14150 9 D/N 11 rs1184338421 0.5145 None gnomAD-4.0.0 1.20033E-06
14151 10 Q/E 13 None 0.1883 None gnomAD-4.0.0 6.84503E-07
14152 11 T/A 14 rs1472786496 0.4345 None gnomAD-2.1.1 4.03E-06
14152 11 T/A 14 rs1472786496 0.4345 None gnomAD-4.0.0 1.5927E-06
14154 13 K/E 18 rs752701347 0.3450 None gnomAD-2.1.1 4.03E-06
14154 13 K/E 18 rs752701347 0.3450 None gnomAD-4.0.0 1.59257E-06
14155 14 E/G 23 rs767378433 0.4831 None gnomAD-2.1.1 4.03E-06
14155 14 E/G 23 rs767378433 0.4831 None gnomAD-3.1.2 1.32E-05
14155 14 E/G 23 rs767378433 0.4831 None gnomAD-4.0.0 3.04515E-06
14156 15 G/C 24 rs878994668 0.3958 None gnomAD-3.1.2 6.58E-06
14156 15 G/C 24 rs878994668 0.3958 None gnomAD-4.0.0 1.85985E-06
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-2.1.1 8.06E-06
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-3.1.2 1.32E-05
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-4.0.0 1.85988E-06
14156 15 G/R 24 None 0.3958 None gnomAD-4.0.0 1.36889E-06
14156 15 G/S 24 rs878994668 0.3958 None gnomAD-2.1.1 8.06E-06
14156 15 G/S 24 rs878994668 0.3958 None gnomAD-4.0.0 2.05334E-06
14156 15 G/V 24 rs574305853 0.3958 None gnomAD-4.0.0 6.8444E-07
14157 16 E/G 25 None 0.3449 None gnomAD-4.0.0 3.60097E-06
14157 16 E/K 25 rs1207534553 0.3449 None gnomAD-4.0.0 1.59247E-06
14158 17 T/A 26 rs2060122664 0.3300 None gnomAD-3.1.2 6.58E-06
14158 17 T/A 26 rs2060122664 0.3300 None gnomAD-4.0.0 6.57635E-06
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-2.1.1 2.15E-05
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-3.1.2 1.97E-05
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-4.0.0 6.26137E-05
14160 19 T/I 29 None 0.2756 None gnomAD-4.0.0 1.20032E-06
14161 20 F/S 30 rs1270574681 0.1072 None gnomAD-2.1.1 4.03E-06
14161 20 F/S 30 rs1270574681 0.1072 None gnomAD-4.0.0 1.5922E-06
14162 21 V/A 31 None 0.3240 None gnomAD-4.0.0 3.18434E-06
14163 22 C/G 33 rs1310975229 0.1026 None gnomAD-2.1.1 4.03E-06
14163 22 C/G 33 rs1310975229 0.1026 None gnomAD-4.0.0 1.59216E-06
14164 23 E/K 34 rs1211763723 0.2376 None gnomAD-4.0.0 1.20032E-06
14166 25 S/A 38 None 0.1678 None gnomAD-4.0.0 1.20032E-06
14167 26 H/R 40 None 0.5795 None gnomAD-4.0.0 4.80129E-06
14167 26 H/Y 40 None 0.5795 None gnomAD-4.0.0 1.59221E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-2.1.1 4.03E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-3.1.2 6.58E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-4.0.0 6.84371E-07
14170 29 M/R 44 rs369623392 0.4018 None gnomAD-3.1.2 6.58E-06
14170 29 M/R 44 rs369623392 0.4018 None gnomAD-4.0.0 6.58233E-06
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-2.1.1 1.28754E-04
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-3.1.2 7.24E-05
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-4.0.0 1.53118E-04
14170 29 M/V 44 None 0.4018 None gnomAD-4.0.0 1.59213E-06
14171 30 H/Q 45 rs142842339 0.8425 None gnomAD-4.0.0 6.84363E-07
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-2.1.1 7.15E-06
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-3.1.2 6.58E-06
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-4.0.0 4.95887E-06
14172 31 V/A 46 rs2060117158 0.1636 None gnomAD-4.0.0 3.18409E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-2.1.1 8.05E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-3.1.2 6.58E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-4.0.0 3.84564E-06
14173 32 V/A 47 None 0.3098 None gnomAD-4.0.0 5.47485E-06
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-2.1.1 4.83E-05
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-3.1.2 2.63E-05
14175 34 F/C 49 rs575813993 0.2055 None 1000 genomes 1.99681E-04
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-4.0.0 5.57838E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-2.1.1 1.43E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-3.1.2 5.92E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-4.0.0 6.81852E-06
14178 37 D/N 52 None 0.8865 None gnomAD-4.0.0 3.60097E-06
14179 38 A/G 55 None 0.3522 None gnomAD-4.0.0 4.79045E-06
14179 38 A/T 55 rs780353399 0.3522 None gnomAD-2.1.1 4.03E-06
14179 38 A/T 55 rs780353399 0.3522 None gnomAD-4.0.0 1.59201E-06
14179 38 A/V 55 None 0.3522 None gnomAD-4.0.0 2.05305E-06
14180 39 K/N 56 None 0.4727 None gnomAD-4.0.0 1.20032E-06
14181 40 L/V 58 None 0.2310 None gnomAD-4.0.0 1.59195E-06
14182 41 H/P 59 rs794729428 0.6934 None gnomAD-4.0.0 2.05301E-06
14183 42 T/A 70 rs72650081 0.6252 None gnomAD-4.0.0 2.73737E-06
14183 42 T/K 70 None 0.6252 None gnomAD-4.0.0 1.20032E-06
14183 42 T/R 70 None 0.6252 None gnomAD-4.0.0 1.20032E-06
14186 45 T/K 115 rs369771893 0.4245 None gnomAD-3.1.2 1.97E-05
14186 45 T/K 115 rs369771893 0.4245 None gnomAD-4.0.0 2.47945E-06
14186 45 T/P 115 rs1187615662 0.4245 None gnomAD-4.0.0 1.59192E-06
14186 45 T/R 115 None 0.4245 None gnomAD-4.0.0 6.84335E-07
14187 46 V/G 121 rs755713534 0.1921 None gnomAD-2.1.1 4.03E-06
14187 46 V/G 121 rs755713534 0.1921 None gnomAD-4.0.0 1.59195E-06
14187 46 V/I 121 None 0.1921 None gnomAD-4.0.0 1.36868E-06
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-2.1.1 8.05E-06
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-3.1.2 1.32E-05
14188 47 L/F 122 rs558930798 0.4056 None 1000 genomes 1.99681E-04
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-4.0.0 3.71888E-06
14188 47 L/R 122 None 0.4056 None gnomAD-4.0.0 2.40065E-06
14188 47 L/V 122 None 0.4056 None gnomAD-4.0.0 6.84339E-07
14189 48 I/F 123 None 0.3306 None gnomAD-4.0.0 1.59193E-06
14190 49 S/F 125 rs755022543 0.4726 None gnomAD-2.1.1 4.03E-06
14190 49 S/Y 125 None 0.4726 None gnomAD-4.0.0 9.60269E-06
14193 52 G/D 131 None 0.4097 None gnomAD-4.0.0 1.59201E-06
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-2.1.1 2.01E-05
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-3.1.2 3.95E-05
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-4.0.0 1.53826E-05
14195 54 T/A 135 None 0.3130 None gnomAD-4.0.0 1.20032E-06
14196 55 H/R 136 None 0.1988 None gnomAD-4.0.0 6.84344E-06
14197 56 K/N 137 None 0.2948 None gnomAD-4.0.0 6.8435E-07
14200 59 M/R 140 None 0.1767 None gnomAD-4.0.0 1.20032E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-2.1.1 4.02E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-3.1.2 6.57E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-4.0.0 5.1265E-06
14203 62 V/M 144 rs761861743 0.1322 None gnomAD-2.1.1 4.02E-06
14203 62 V/M 144 rs761861743 0.1322 None gnomAD-4.0.0 1.592E-06
14204 63 T/P 145 None 0.4022 None gnomAD-4.0.0 2.40065E-06
14205 64 L/V 146 rs747480084 0.4968 None gnomAD-2.1.1 4.02E-06
14205 64 L/V 146 rs747480084 0.4968 None gnomAD-4.0.0 1.36869E-06
14206 65 D/H 148 None 0.9204 None gnomAD-4.0.0 1.20032E-06
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-2.1.1 3.19E-05
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-3.1.2 6.58E-06
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-4.0.0 6.57566E-06
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-2.1.1 1.21E-05
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-3.1.2 6.58E-06
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-4.0.0 5.12602E-06
14208 67 I/V 151 rs1447217875 0.4091 None gnomAD-2.1.1 4.02E-06
14208 67 I/V 151 rs1447217875 0.4091 None gnomAD-4.0.0 1.59211E-06
14211 70 I/T 154 None 0.0826 None gnomAD-4.0.0 1.59212E-06
14213 72 A/S 156 None 0.0932 None gnomAD-4.0.0 1.36875E-06
14213 72 A/T 156 rs892930093 0.0932 None gnomAD-4.0.0 1.36875E-06
14214 73 Q/E 157 rs1188613689 0.4059 None gnomAD-2.1.1 4.02E-06
14214 73 Q/E 157 rs1188613689 0.4059 None gnomAD-4.0.0 2.73757E-06
14214 73 Q/P 157 None 0.4059 None gnomAD-4.0.0 2.73803E-06
14215 74 V/F 158 None 0.1782 None gnomAD-4.0.0 1.59218E-06
14216 75 K/Q 159 rs1450576387 0.7409 None gnomAD-2.1.1 8.05E-06
14216 75 K/Q 159 rs1450576387 0.7409 None gnomAD-4.0.0 2.05315E-06
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-2.1.1 4.02E-06
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-3.1.2 1.31E-05
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-4.0.0 1.85961E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-2.1.1 4.02E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-3.1.2 6.57E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-4.0.0 3.09942E-06
14220 79 S/F 169 rs777534842 0.1215 None gnomAD-2.1.1 4.02E-06
14220 79 S/F 169 rs777534842 0.1215 None gnomAD-4.0.0 1.36884E-06
14223 82 Q/H 173 rs371287021 0.2846 None gnomAD-2.1.1 3.19E-05
14226 85 V/I 178 rs1232583484 0.1422 None gnomAD-2.1.1 4.03E-06
14226 85 V/I 178 rs1232583484 0.1422 None gnomAD-4.0.0 1.59314E-06