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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
34137 1 P/L 1 None 0.1741 None gnomAD-4.0.0 1.59096E-06
34138 2 V/A 2 rs761112704 0.4144 None gnomAD-2.1.1 4.02E-06
34138 2 V/A 2 rs761112704 0.4144 None gnomAD-4.0.0 1.3683E-06
34138 2 V/D 2 None 0.4144 None gnomAD-4.0.0 6.84151E-07
34140 4 G/A 4 None 0.2681 None gnomAD-4.0.0 1.59095E-06
34140 4 G/E 4 None 0.2681 None gnomAD-4.0.0 1.59095E-06
34140 4 G/R 4 rs1294610003 0.2681 None gnomAD-3.1.2 1.31E-05
34140 4 G/R 4 rs1294610003 0.2681 None gnomAD-4.0.0 5.57695E-06
34142 6 I/L 7 rs528796532 0.1222 None gnomAD-2.1.1 4.82E-05
34142 6 I/L 7 rs528796532 0.1222 None 1000 genomes None
34142 6 I/L 7 rs528796532 0.1222 None gnomAD-4.0.0 1.71038E-05
34142 6 I/T 7 rs1690422434 0.1222 None gnomAD-3.1.2 6.57E-06
34142 6 I/T 7 rs1690422434 0.1222 None gnomAD-4.0.0 6.57177E-06
34143 7 M/K 8 None 0.7373 None gnomAD-4.0.0 6.84154E-07
34143 7 M/L 8 rs371226574 0.7373 None gnomAD-2.1.1 4.02E-06
34143 7 M/L 8 rs371226574 0.7373 None gnomAD-3.1.2 3.29E-05
34143 7 M/L 8 rs371226574 0.7373 None gnomAD-4.0.0 1.15283E-05
34143 7 M/T 8 rs397517786 0.7373 None gnomAD-2.1.1 7.85E-05
34143 7 M/T 8 rs397517786 0.7373 None gnomAD-3.1.2 9.2E-05
34143 7 M/T 8 rs397517786 0.7373 None gnomAD-4.0.0 1.21451E-04
34144 8 H/Q 9 None 0.5358 None gnomAD-4.0.0 1.36831E-06
34144 8 H/R 9 rs1553495003 0.5358 None gnomAD-4.0.0 1.20032E-06
34144 8 H/Y 9 rs560027565 0.5358 None gnomAD-2.1.1 4.02E-06
34144 8 H/Y 9 rs560027565 0.5358 None gnomAD-3.1.2 6.57E-06
34144 8 H/Y 9 rs560027565 0.5358 None 1000 genomes 1.99681E-04
34144 8 H/Y 9 rs560027565 0.5358 None gnomAD-4.0.0 6.56676E-06
34145 9 A/T 11 rs542891030 0.1599 None gnomAD-2.1.1 2.01E-05
34145 9 A/T 11 rs542891030 0.1599 None gnomAD-3.1.2 6.57E-06
34145 9 A/T 11 rs542891030 0.1599 None 1000 genomes 1.99681E-04
34145 9 A/T 11 rs542891030 0.1599 None gnomAD-4.0.0 3.84199E-06
34145 9 A/V 11 None 0.1599 None gnomAD-4.0.0 1.20032E-06
34146 10 V/A 13 rs1690411709 0.5808 None gnomAD-4.0.0 6.84154E-07
34146 10 V/F 13 None 0.5808 None gnomAD-4.0.0 1.36831E-06
34146 10 V/G 13 rs1690411709 0.5808 None gnomAD-3.1.2 6.57E-06
34146 10 V/G 13 rs1690411709 0.5808 None gnomAD-4.0.0 1.23933E-06
34146 10 V/I 13 rs1690412972 0.5808 None gnomAD-4.0.0 6.84156E-07
34146 10 V/L 13 None 0.5808 None gnomAD-4.0.0 6.84156E-07
34147 11 G/V 16 None 0.1780 None gnomAD-4.0.0 1.20032E-06
34149 13 E/A 23 None 0.5619 None gnomAD-4.0.0 6.84156E-07
34149 13 E/G 23 rs1165341799 0.5619 None gnomAD-3.1.2 6.57E-06
34149 13 E/G 23 rs1165341799 0.5619 None gnomAD-4.0.0 2.47854E-06
34149 13 E/K 23 rs780580255 0.5619 None gnomAD-2.1.1 4.02E-06
34149 13 E/K 23 rs780580255 0.5619 None gnomAD-3.1.2 6.57E-06
34149 13 E/K 23 rs780580255 0.5619 None gnomAD-4.0.0 4.95711E-06
34150 14 G/E 24 rs768162354 0.3865 None gnomAD-2.1.1 4.02E-06
34150 14 G/E 24 rs768162354 0.3865 None gnomAD-4.0.0 2.05247E-06
34151 15 G/E 25 None 0.1886 None gnomAD-4.0.0 1.20032E-06
34151 15 G/R 25 rs191522469 0.1886 None gnomAD-2.1.1 1.21E-05
34151 15 G/R 25 rs191522469 0.1886 None gnomAD-3.1.2 5.26E-05
34151 15 G/R 25 rs191522469 0.1886 None 1000 genomes 1.99681E-04
34151 15 G/R 25 rs191522469 0.1886 None gnomAD-4.0.0 5.32871E-05
34152 16 H/L 26 None 0.4735 None gnomAD-4.0.0 1.20032E-06
34152 16 H/Q 26 rs758384544 0.4735 None gnomAD-2.1.1 7.23E-05
34152 16 H/Q 26 rs758384544 0.4735 None gnomAD-3.1.2 1.31E-05
34152 16 H/Q 26 rs758384544 0.4735 None gnomAD-4.0.0 3.59395E-05
34152 16 H/R 26 None 0.4735 None gnomAD-4.0.0 3.60097E-06
34153 17 V/I 28 rs1236074112 0.1829 None gnomAD-2.1.1 8.04E-06
34153 17 V/I 28 rs1236074112 0.1829 None gnomAD-3.1.2 6.57E-06
34153 17 V/I 28 rs1236074112 0.1829 None gnomAD-4.0.0 5.1235E-06
34155 19 Y/H 30 None 0.1056 None gnomAD-4.0.0 1.20032E-06
34157 21 C/R 33 None 0.0985 None gnomAD-4.0.0 1.36831E-06
34157 21 C/S 33 rs1690398019 0.0985 None gnomAD-3.1.2 6.57E-06
34157 21 C/S 33 rs1690398019 0.0985 None gnomAD-4.0.0 1.85892E-06
34159 23 I/T 35 rs1690397017 0.1142 None gnomAD-4.0.0 1.59095E-06
34161 25 N/Y 39 rs1278747931 0.6971 None gnomAD-2.1.1 4.02E-06
34161 25 N/Y 39 rs1278747931 0.6971 None gnomAD-4.0.0 3.18194E-06
34162 26 Y/H 40 rs1439821574 0.3653 None gnomAD-2.1.1 4.02E-06
34163 27 D/G 41 None 0.2616 None gnomAD-4.0.0 6.84158E-07
34163 27 D/N 41 rs750297489 0.2616 None gnomAD-2.1.1 7.14E-06
34163 27 D/N 41 rs750297489 0.2616 None gnomAD-3.1.2 1.31E-05
34163 27 D/N 41 rs750297489 0.2616 None gnomAD-4.0.0 3.71792E-06
34163 27 D/Y 41 rs750297489 0.2616 None gnomAD-2.1.1 3.18E-05
34164 28 Q/P 42 None 1.0722 None gnomAD-4.0.0 1.36832E-06
34164 28 Q/R 42 rs1329503424 1.0722 None gnomAD-2.1.1 4.02E-06
34164 28 Q/R 42 rs1329503424 1.0722 None gnomAD-4.0.0 6.84159E-07
34166 30 T/S 44 None 0.1460 None gnomAD-4.0.0 1.20032E-06
34168 32 V/A 46 rs1022062534 0.2428 None gnomAD-3.1.2 1.31E-05
34168 32 V/A 46 rs1022062534 0.2428 None gnomAD-4.0.0 3.04488E-06
34169 33 T/I 47 rs1410488429 0.3237 None gnomAD-2.1.1 4.02E-06
34169 33 T/I 47 rs1410488429 0.3237 None gnomAD-4.0.0 4.77291E-06
34170 34 W/C 48 rs1559033550 0.1305 None gnomAD-4.0.0 3.18193E-06
34170 34 W/G 48 rs778786999 0.1305 None gnomAD-4.0.0 6.84157E-07
34170 34 W/R 48 rs778786999 0.1305 None gnomAD-2.1.1 4.02E-06
34170 34 W/R 48 rs778786999 0.1305 None gnomAD-4.0.0 6.84157E-07
34171 35 Y/C 49 None 0.2216 None gnomAD-4.0.0 1.20032E-06
34172 36 F/I 50 None 0.1937 None gnomAD-4.0.0 1.59097E-06
34172 36 F/L 50 None 0.1937 None gnomAD-4.0.0 1.59102E-06
34172 36 F/S 50 rs757435628 0.1937 None gnomAD-4.0.0 2.73665E-06
34173 37 G/D 51 rs752184554 0.3672 None gnomAD-2.1.1 1.21E-05
34173 37 G/D 51 rs752184554 0.3672 None gnomAD-3.1.2 1.31E-05
34173 37 G/D 51 rs752184554 0.3672 None gnomAD-4.0.0 2.97435E-05
34174 38 V/A 52 None 1.0504 None gnomAD-4.0.0 1.59099E-06
34174 38 V/I 52 rs200430493 1.0504 None gnomAD-2.1.1 8.92E-05
34174 38 V/I 52 rs200430493 1.0504 None gnomAD-3.1.2 1.77412E-04
34174 38 V/I 52 rs200430493 1.0504 None gnomAD-4.0.0 8.30329E-05
34175 39 R/Q 55 rs201954720 0.4654 None gnomAD-2.1.1 5.35E-05
34175 39 R/Q 55 rs201954720 0.4654 None gnomAD-3.1.2 1.1172E-04
34175 39 R/Q 55 rs201954720 0.4654 None 1000 genomes 1.99681E-04
34175 39 R/Q 55 rs201954720 0.4654 None gnomAD-4.0.0 7.93104E-05
34177 41 L/M 58 rs760034286 0.1452 None gnomAD-2.1.1 1.21E-05
34177 41 L/M 58 rs760034286 0.1452 None gnomAD-4.0.0 1.59102E-06
34177 41 L/V 58 None 0.1452 None gnomAD-4.0.0 1.59102E-06
34178 42 E/Q 59 rs774700628 0.8347 None gnomAD-2.1.1 4.02E-06
34178 42 E/Q 59 rs774700628 0.8347 None gnomAD-4.0.0 2.73664E-06
34180 44 S/G 73 None 0.2575 None gnomAD-4.0.0 3.18201E-06
34180 44 S/I 73 None 0.2575 None gnomAD-4.0.0 1.591E-06
34180 44 S/N 73 rs1254821683 0.2575 None gnomAD-2.1.1 1.2E-05
34180 44 S/N 73 rs1254821683 0.2575 None gnomAD-4.0.0 6.36402E-06
34180 44 S/R 73 None 0.2575 None gnomAD-4.0.0 1.591E-06
34182 46 K/T 115 rs1348175807 0.1530 None gnomAD-2.1.1 4.02E-06
34182 46 K/T 115 rs1348175807 0.1530 None gnomAD-4.0.0 4.77303E-06
34184 48 E/A 122 rs920777916 0.4725 None gnomAD-2.1.1 4.02E-06
34184 48 E/A 122 rs920777916 0.4725 None gnomAD-4.0.0 1.59101E-06
34184 48 E/K 122 rs776306284 0.4725 None gnomAD-2.1.1 3.21E-05
34184 48 E/K 122 rs776306284 0.4725 None gnomAD-3.1.2 5.26E-05
34184 48 E/K 122 rs776306284 0.4725 None gnomAD-4.0.0 1.73502E-05
34185 49 I/L 123 None 0.2305 None gnomAD-3.1.2 6.57E-06
34185 49 I/L 123 None 0.2305 None gnomAD-4.0.0 6.56944E-06
34185 49 I/T 123 rs1280013764 0.2305 None gnomAD-2.1.1 4.02E-06
34185 49 I/T 123 rs1280013764 0.2305 None gnomAD-4.0.0 1.591E-06
34186 50 T/I 125 rs768158620 0.4815 None gnomAD-2.1.1 4.02E-06
34186 50 T/I 125 rs768158620 0.4815 None gnomAD-4.0.0 1.59098E-06
34187 51 Y/C 127 rs1354824295 0.3010 None gnomAD-2.1.1 4.02E-06
34187 51 Y/C 127 rs1354824295 0.3010 None gnomAD-4.0.0 1.59097E-06
34188 52 E/K 130 rs577667352 0.7859 None gnomAD-2.1.1 5.22E-05
34188 52 E/K 130 rs577667352 0.7859 None gnomAD-3.1.2 1.97E-05
34188 52 E/K 130 rs577667352 0.7859 None 1000 genomes 1.99681E-04
34188 52 E/K 130 rs577667352 0.7859 None gnomAD-4.0.0 3.03603E-05
34190 54 G/E 134 rs1690354224 0.0961 None gnomAD-3.1.2 6.57E-06
34190 54 G/E 134 rs1690354224 0.0961 None gnomAD-4.0.0 3.84243E-06
34191 55 V/G 135 None 0.3120 None gnomAD-4.0.0 2.40065E-06
34191 55 V/M 135 None 0.3120 None gnomAD-4.0.0 1.20032E-06
34193 57 I/F 137 None 0.2313 None gnomAD-4.0.0 1.59098E-06
34194 58 L/I 138 rs745744350 0.0696 None gnomAD-2.1.1 4.02E-06
34194 58 L/I 138 rs745744350 0.0696 None gnomAD-3.1.2 6.57E-06
34194 58 L/I 138 rs745744350 0.0696 None gnomAD-4.0.0 6.08965E-06
34195 59 Y/C 139 None 0.3531 None gnomAD-4.0.0 3.18197E-06
34196 60 V/I 140 rs1185169765 0.1081 None gnomAD-3.1.2 6.57E-06
34196 60 V/I 140 rs1185169765 0.1081 None gnomAD-4.0.0 2.47856E-06
34198 62 D/E 143 rs778876835 0.6060 None gnomAD-2.1.1 4.02E-06
34198 62 D/H 143 rs948836784 0.6060 None gnomAD-3.1.2 6.57E-06
34198 62 D/H 143 rs948836784 0.6060 None gnomAD-4.0.0 6.57091E-06
34198 62 D/N 143 rs948836784 0.6060 None gnomAD-4.0.0 3.182E-06
34199 63 I/M 144 rs749009190 0.1018 None gnomAD-2.1.1 4.01E-06
34199 63 I/M 144 rs749009190 0.1018 None gnomAD-4.0.0 3.182E-06
34199 63 I/V 144 rs56347248 0.1018 None gnomAD-2.1.1 3.38351E-03
34199 63 I/V 144 rs56347248 0.1018 None gnomAD-3.1.2 1.72112E-03
34199 63 I/V 144 rs56347248 0.1018 None 1000 genomes 5.99042E-03
34199 63 I/V 144 rs56347248 0.1018 None gnomAD-4.0.0 2.16048E-03
34200 64 T/I 145 None 0.3316 None gnomAD-4.0.0 2.40065E-06
34203 67 D/G 149 None 0.1591 None gnomAD-4.0.0 1.20032E-06
34203 67 D/N 149 rs1189437049 0.1591 None gnomAD-2.1.1 4.02E-06
34203 67 D/N 149 rs1189437049 0.1591 None gnomAD-3.1.2 1.31E-05
34203 67 D/N 149 rs1189437049 0.1591 None gnomAD-4.0.0 3.09822E-06
34204 68 D/E 151 rs2154135586 0.4038 None gnomAD-4.0.0 2.40064E-06
34204 68 D/G 151 None 0.4038 None gnomAD-4.0.0 1.20032E-06
34204 68 D/N 151 rs778105940 0.4038 None gnomAD-2.1.1 1.61E-05
34204 68 D/N 151 rs778105940 0.4038 None gnomAD-4.0.0 3.18207E-06
34205 69 G/D 152 rs367926247 0.1646 None gnomAD-2.1.1 6.06E-05
34205 69 G/D 152 rs367926247 0.1646 None gnomAD-3.1.2 1.97E-05
34205 69 G/D 152 rs367926247 0.1646 None gnomAD-4.0.0 7.80745E-05
34205 69 G/S 152 None 0.1646 None gnomAD-4.0.0 1.59103E-06
34206 70 T/I 153 rs767516936 0.3332 None gnomAD-2.1.1 8.03E-06
34206 70 T/I 153 rs767516936 0.3332 None gnomAD-4.0.0 1.59103E-06
34207 71 Y/H 154 None 0.1020 None gnomAD-4.0.0 1.20032E-06
34209 73 C/R 156 None 0.0753 None gnomAD-4.0.0 1.20032E-06
34210 74 K/N 157 None 0.2486 None gnomAD-4.0.0 1.59104E-06
34213 77 N/S 161 rs375332499 0.1278 None gnomAD-2.1.1 8.03E-06
34213 77 N/S 161 rs375332499 0.1278 None gnomAD-3.1.2 1.31E-05
34213 77 N/S 161 rs375332499 0.1278 None gnomAD-4.0.0 3.0982E-06
34214 78 D/E 162 rs766760792 0.7284 None gnomAD-2.1.1 1.61E-05
34214 78 D/E 162 rs766760792 0.7284 None gnomAD-4.0.0 9.54654E-06
34215 79 Y/C 163 rs2154135557 0.9450 None gnomAD-4.0.0 3.18211E-06
34216 80 G/D 164 None 0.2675 None gnomAD-4.0.0 1.36835E-06
34216 80 G/S 164 rs1332571612 0.2675 None gnomAD-2.1.1 1.2E-05
34216 80 G/S 164 rs1332571612 0.2675 None gnomAD-4.0.0 4.77328E-06
34219 83 S/G 168 None 0.2173 None gnomAD-4.0.0 2.40064E-06
34219 83 S/R 168 rs370077023 0.2173 None gnomAD-2.1.1 1.46235E-04
34219 83 S/R 168 rs370077023 0.2173 None gnomAD-3.1.2 4.73155E-04
34219 83 S/R 168 rs370077023 0.2173 None 1000 genomes 1.99681E-04
34219 83 S/R 168 rs370077023 0.2173 None gnomAD-4.0.0 9.17039E-05
34220 84 S/A 169 rs763863092 0.1199 None gnomAD-2.1.1 1.43E-05
34220 84 S/A 169 rs763863092 0.1199 None gnomAD-3.1.2 5.91E-05
34220 84 S/A 169 rs763863092 0.1199 None gnomAD-4.0.0 1.53713E-05
34224 88 L/I 174 None 0.0923 None gnomAD-4.0.0 1.59123E-06
34226 90 V/L 178 None 0.2367 None gnomAD-4.0.0 2.40064E-06