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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
K E L Y E K Y M I A E D L G R G E F G I V H R C V E T S S K K T Y M A K F V K V K G T D Q V L V K K E I S I L N I A R H R N I L H L H E S F E S M E E L V M I F E F I S G L D I F E R I N T S A F E L N E R E I V S Y V H Q V C E A L Q F L H S H N I G H F D I R P E N I I Y Q T R R S S T I K I I E F G Q A R Q L K P G D N F R L L F T A P E Y Y A P E V H Q H D V V S T A T D M W S L G T L V Y V L L S G I N P F L A E T N Q Q I I E N I M N A E Y T F D E E A F K E I S I E A M D F V D R L L V K E R K S R M T A S E A L Q H P W L K Q K I E R V S T K V I R T L K H R R Y Y H T L I K K D L N M V V S A A R I S C G G A I R S Q K G V S V A K V K V A S I E I G 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 K
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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 0.1389 None gnomAD-4.0.0 1.59096E-06
34138 2 V/A 2 rs761112704 0.3264 None gnomAD-2.1.1 4.02E-06
34138 2 V/A 2 rs761112704 0.3264 None gnomAD-4.0.0 1.3683E-06
34138 2 V/D 2 None 0.3264 None gnomAD-4.0.0 6.84151E-07
34140 4 G/A 4 None 0.2462 None gnomAD-4.0.0 1.59095E-06
34140 4 G/E 4 None 0.2462 None gnomAD-4.0.0 1.59095E-06
34140 4 G/R 4 rs1294610003 0.2462 None gnomAD-3.1.2 1.31E-05
34140 4 G/R 4 rs1294610003 0.2462 None gnomAD-4.0.0 5.57695E-06
34142 6 I/L 7 rs528796532 0.1086 None gnomAD-2.1.1 4.82E-05
34142 6 I/L 7 rs528796532 0.1086 None 1000 genomes None
34142 6 I/L 7 rs528796532 0.1086 None gnomAD-4.0.0 1.71038E-05
34142 6 I/T 7 rs1690422434 0.1086 None gnomAD-3.1.2 6.57E-06
34142 6 I/T 7 rs1690422434 0.1086 None gnomAD-4.0.0 6.57177E-06
34143 7 M/K 8 None 0.2785 None gnomAD-4.0.0 6.84154E-07
34143 7 M/L 8 rs371226574 0.2785 None gnomAD-2.1.1 4.02E-06
34143 7 M/L 8 rs371226574 0.2785 None gnomAD-3.1.2 3.29E-05
34143 7 M/L 8 rs371226574 0.2785 None gnomAD-4.0.0 1.15283E-05
34143 7 M/T 8 rs397517786 0.2785 None gnomAD-2.1.1 7.85E-05
34143 7 M/T 8 rs397517786 0.2785 None gnomAD-3.1.2 9.2E-05
34143 7 M/T 8 rs397517786 0.2785 None gnomAD-4.0.0 1.21451E-04
34144 8 H/Q 9 None 0.439 None gnomAD-4.0.0 1.36831E-06
34144 8 H/R 9 rs1553495003 0.439 None gnomAD-4.0.0 1.20032E-06
34144 8 H/Y 9 rs560027565 0.439 None gnomAD-2.1.1 4.02E-06
34144 8 H/Y 9 rs560027565 0.439 None gnomAD-3.1.2 6.57E-06
34144 8 H/Y 9 rs560027565 0.439 None 1000 genomes 1.99681E-04
34144 8 H/Y 9 rs560027565 0.439 None gnomAD-4.0.0 6.56676E-06
34145 9 A/T 11 rs542891030 0.1622 None gnomAD-2.1.1 2.01E-05
34145 9 A/T 11 rs542891030 0.1622 None gnomAD-3.1.2 6.57E-06
34145 9 A/T 11 rs542891030 0.1622 None 1000 genomes 1.99681E-04
34145 9 A/T 11 rs542891030 0.1622 None gnomAD-4.0.0 3.84199E-06
34145 9 A/V 11 None 0.1622 None gnomAD-4.0.0 1.20032E-06
34146 10 V/A 13 rs1690411709 0.5679 None gnomAD-4.0.0 6.84154E-07
34146 10 V/F 13 None 0.5679 None gnomAD-4.0.0 1.36831E-06
34146 10 V/G 13 rs1690411709 0.5679 None gnomAD-3.1.2 6.57E-06
34146 10 V/G 13 rs1690411709 0.5679 None gnomAD-4.0.0 1.23933E-06
34146 10 V/I 13 rs1690412972 0.5679 None gnomAD-4.0.0 6.84156E-07
34146 10 V/L 13 None 0.5679 None gnomAD-4.0.0 6.84156E-07
34147 11 G/V 16 None 0.1687 None gnomAD-4.0.0 1.20032E-06
34149 13 E/A 23 None 0.6127 None gnomAD-4.0.0 6.84156E-07
34149 13 E/G 23 rs1165341799 0.6127 None gnomAD-3.1.2 6.57E-06
34149 13 E/G 23 rs1165341799 0.6127 None gnomAD-4.0.0 2.47854E-06
34149 13 E/K 23 rs780580255 0.6127 None gnomAD-2.1.1 4.02E-06
34149 13 E/K 23 rs780580255 0.6127 None gnomAD-3.1.2 6.57E-06
34149 13 E/K 23 rs780580255 0.6127 None gnomAD-4.0.0 4.95711E-06
34150 14 G/E 24 rs768162354 0.4471 None gnomAD-2.1.1 4.02E-06
34150 14 G/E 24 rs768162354 0.4471 None gnomAD-4.0.0 2.05247E-06
34151 15 G/E 25 None 0.2146 None gnomAD-4.0.0 1.20032E-06
34151 15 G/R 25 rs191522469 0.2146 None gnomAD-2.1.1 1.21E-05
34151 15 G/R 25 rs191522469 0.2146 None gnomAD-3.1.2 5.26E-05
34151 15 G/R 25 rs191522469 0.2146 None 1000 genomes 1.99681E-04
34151 15 G/R 25 rs191522469 0.2146 None gnomAD-4.0.0 5.32871E-05
34152 16 H/L 26 None 0.7978 None gnomAD-4.0.0 1.20032E-06
34152 16 H/Q 26 rs758384544 0.7978 None gnomAD-2.1.1 7.23E-05
34152 16 H/Q 26 rs758384544 0.7978 None gnomAD-3.1.2 1.31E-05
34152 16 H/Q 26 rs758384544 0.7978 None gnomAD-4.0.0 3.59395E-05
34152 16 H/R 26 None 0.7978 None gnomAD-4.0.0 3.60097E-06
34153 17 V/I 28 rs1236074112 0.1804 None gnomAD-2.1.1 8.04E-06
34153 17 V/I 28 rs1236074112 0.1804 None gnomAD-3.1.2 6.57E-06
34153 17 V/I 28 rs1236074112 0.1804 None gnomAD-4.0.0 5.1235E-06
34155 19 Y/H 30 None 0.1082 None gnomAD-4.0.0 1.20032E-06
34157 21 C/R 33 None 0.1027 None gnomAD-4.0.0 1.36831E-06
34157 21 C/S 33 rs1690398019 0.1027 None gnomAD-3.1.2 6.57E-06
34157 21 C/S 33 rs1690398019 0.1027 None gnomAD-4.0.0 1.85892E-06
34159 23 I/T 35 rs1690397017 0.1208 None gnomAD-4.0.0 1.59095E-06
34161 25 N/Y 39 rs1278747931 0.3751 None gnomAD-2.1.1 4.02E-06
34161 25 N/Y 39 rs1278747931 0.3751 None gnomAD-4.0.0 3.18194E-06
34162 26 Y/H 40 rs1439821574 0.369 None gnomAD-2.1.1 4.02E-06
34163 27 D/G 41 None 0.2536 None gnomAD-4.0.0 6.84158E-07
34163 27 D/N 41 rs750297489 0.2536 None gnomAD-2.1.1 7.14E-06
34163 27 D/N 41 rs750297489 0.2536 None gnomAD-3.1.2 1.31E-05
34163 27 D/N 41 rs750297489 0.2536 None gnomAD-4.0.0 3.71792E-06
34163 27 D/Y 41 rs750297489 0.2536 None gnomAD-2.1.1 3.18E-05
34164 28 Q/P 42 None 1.0728 None gnomAD-4.0.0 1.36832E-06
34164 28 Q/R 42 rs1329503424 1.0728 None gnomAD-2.1.1 4.02E-06
34164 28 Q/R 42 rs1329503424 1.0728 None gnomAD-4.0.0 6.84159E-07
34166 30 T/S 44 None 0.1383 None gnomAD-4.0.0 1.20032E-06
34168 32 V/A 46 rs1022062534 0.2591 None gnomAD-3.1.2 1.31E-05
34168 32 V/A 46 rs1022062534 0.2591 None gnomAD-4.0.0 3.04488E-06
34169 33 T/I 47 rs1410488429 0.2784 None gnomAD-2.1.1 4.02E-06
34169 33 T/I 47 rs1410488429 0.2784 None gnomAD-4.0.0 4.77291E-06
34170 34 W/C 48 rs1559033550 0.1316 None gnomAD-4.0.0 3.18193E-06
34170 34 W/G 48 rs778786999 0.1316 None gnomAD-4.0.0 6.84157E-07
34170 34 W/R 48 rs778786999 0.1316 None gnomAD-2.1.1 4.02E-06
34170 34 W/R 48 rs778786999 0.1316 None gnomAD-4.0.0 6.84157E-07
34171 35 Y/C 49 None 0.2211 None gnomAD-4.0.0 1.20032E-06
34172 36 F/I 50 None 0.1782 None gnomAD-4.0.0 1.59097E-06
34172 36 F/L 50 None 0.1782 None gnomAD-4.0.0 1.59102E-06
34172 36 F/S 50 rs757435628 0.1782 None gnomAD-4.0.0 2.73665E-06
34173 37 G/D 51 rs752184554 0.3428 None gnomAD-2.1.1 1.21E-05
34173 37 G/D 51 rs752184554 0.3428 None gnomAD-3.1.2 1.31E-05
34173 37 G/D 51 rs752184554 0.3428 None gnomAD-4.0.0 2.97435E-05
34174 38 V/A 52 None 1.056 None gnomAD-4.0.0 1.59099E-06
34174 38 V/I 52 rs200430493 1.056 None gnomAD-2.1.1 8.92E-05
34174 38 V/I 52 rs200430493 1.056 None gnomAD-3.1.2 1.77412E-04
34174 38 V/I 52 rs200430493 1.056 None gnomAD-4.0.0 8.30329E-05
34175 39 R/Q 55 rs201954720 0.4189 None gnomAD-2.1.1 5.35E-05
34175 39 R/Q 55 rs201954720 0.4189 None gnomAD-3.1.2 1.1172E-04
34175 39 R/Q 55 rs201954720 0.4189 None 1000 genomes 1.99681E-04
34175 39 R/Q 55 rs201954720 0.4189 None gnomAD-4.0.0 7.93104E-05
34177 41 L/M 58 rs760034286 0.1428 None gnomAD-2.1.1 1.21E-05
34177 41 L/M 58 rs760034286 0.1428 None gnomAD-4.0.0 1.59102E-06
34177 41 L/V 58 None 0.1428 None gnomAD-4.0.0 1.59102E-06
34178 42 E/Q 59 rs774700628 0.8221 None gnomAD-2.1.1 4.02E-06
34178 42 E/Q 59 rs774700628 0.8221 None gnomAD-4.0.0 2.73664E-06
34180 44 S/G 73 None 0.2547 None gnomAD-4.0.0 3.18201E-06
34180 44 S/I 73 None 0.2547 None gnomAD-4.0.0 1.591E-06
34180 44 S/N 73 rs1254821683 0.2547 None gnomAD-2.1.1 1.2E-05
34180 44 S/N 73 rs1254821683 0.2547 None gnomAD-4.0.0 6.36402E-06
34180 44 S/R 73 None 0.2547 None gnomAD-4.0.0 1.591E-06
34182 46 K/T 115 rs1348175807 0.1506 None gnomAD-2.1.1 4.02E-06
34182 46 K/T 115 rs1348175807 0.1506 None gnomAD-4.0.0 4.77303E-06
34184 48 E/A 122 rs920777916 0.3791 None gnomAD-2.1.1 4.02E-06
34184 48 E/A 122 rs920777916 0.3791 None gnomAD-4.0.0 1.59101E-06
34184 48 E/K 122 rs776306284 0.3791 None gnomAD-2.1.1 3.21E-05
34184 48 E/K 122 rs776306284 0.3791 None gnomAD-3.1.2 5.26E-05
34184 48 E/K 122 rs776306284 0.3791 None gnomAD-4.0.0 1.73502E-05
34185 49 I/L 123 None 0.2397 None gnomAD-3.1.2 6.57E-06
34185 49 I/L 123 None 0.2397 None gnomAD-4.0.0 6.56944E-06
34185 49 I/T 123 rs1280013764 0.2397 None gnomAD-2.1.1 4.02E-06
34185 49 I/T 123 rs1280013764 0.2397 None gnomAD-4.0.0 1.591E-06
34186 50 T/I 125 rs768158620 0.4853 None gnomAD-2.1.1 4.02E-06
34186 50 T/I 125 rs768158620 0.4853 None gnomAD-4.0.0 1.59098E-06
34187 51 Y/C 127 rs1354824295 0.3315 None gnomAD-2.1.1 4.02E-06
34187 51 Y/C 127 rs1354824295 0.3315 None gnomAD-4.0.0 1.59097E-06
34188 52 E/K 130 rs577667352 0.8007 None gnomAD-2.1.1 5.22E-05
34188 52 E/K 130 rs577667352 0.8007 None gnomAD-3.1.2 1.97E-05
34188 52 E/K 130 rs577667352 0.8007 None 1000 genomes 1.99681E-04
34188 52 E/K 130 rs577667352 0.8007 None gnomAD-4.0.0 3.03603E-05
34190 54 G/E 134 rs1690354224 0.1023 None gnomAD-3.1.2 6.57E-06
34190 54 G/E 134 rs1690354224 0.1023 None gnomAD-4.0.0 3.84243E-06
34191 55 V/G 135 None 0.331 None gnomAD-4.0.0 2.40065E-06
34191 55 V/M 135 None 0.331 None gnomAD-4.0.0 1.20032E-06
34193 57 I/F 137 None 0.1916 None gnomAD-4.0.0 1.59098E-06
34194 58 L/I 138 rs745744350 0.0656 None gnomAD-2.1.1 4.02E-06
34194 58 L/I 138 rs745744350 0.0656 None gnomAD-3.1.2 6.57E-06
34194 58 L/I 138 rs745744350 0.0656 None gnomAD-4.0.0 6.08965E-06
34195 59 Y/C 139 None 0.3254 None gnomAD-4.0.0 3.18197E-06
34196 60 V/I 140 rs1185169765 0.1031 None gnomAD-3.1.2 6.57E-06
34196 60 V/I 140 rs1185169765 0.1031 None gnomAD-4.0.0 2.47856E-06
34198 62 D/E 143 rs778876835 0.6991 None gnomAD-2.1.1 4.02E-06
34198 62 D/H 143 rs948836784 0.6991 None gnomAD-3.1.2 6.57E-06
34198 62 D/H 143 rs948836784 0.6991 None gnomAD-4.0.0 6.57091E-06
34198 62 D/N 143 rs948836784 0.6991 None gnomAD-4.0.0 3.182E-06
34199 63 I/M 144 rs749009190 0.0938 None gnomAD-2.1.1 4.01E-06
34199 63 I/M 144 rs749009190 0.0938 None gnomAD-4.0.0 3.182E-06
34199 63 I/V 144 rs56347248 0.0938 None gnomAD-2.1.1 3.38351E-03
34199 63 I/V 144 rs56347248 0.0938 None gnomAD-3.1.2 1.72112E-03
34199 63 I/V 144 rs56347248 0.0938 None 1000 genomes 5.99042E-03
34199 63 I/V 144 rs56347248 0.0938 None gnomAD-4.0.0 2.16048E-03
34200 64 T/I 145 None 0.3237 None gnomAD-4.0.0 2.40065E-06
34203 67 D/G 149 None 0.1405 None gnomAD-4.0.0 1.20032E-06
34203 67 D/N 149 rs1189437049 0.1405 None gnomAD-2.1.1 4.02E-06
34203 67 D/N 149 rs1189437049 0.1405 None gnomAD-3.1.2 1.31E-05
34203 67 D/N 149 rs1189437049 0.1405 None gnomAD-4.0.0 3.09822E-06
34204 68 D/E 151 rs2154135586 0.381 None gnomAD-4.0.0 2.40064E-06
34204 68 D/G 151 None 0.381 None gnomAD-4.0.0 1.20032E-06
34204 68 D/N 151 rs778105940 0.381 None gnomAD-2.1.1 1.61E-05
34204 68 D/N 151 rs778105940 0.381 None gnomAD-4.0.0 3.18207E-06
34205 69 G/D 152 rs367926247 0.1631 None gnomAD-2.1.1 6.06E-05
34205 69 G/D 152 rs367926247 0.1631 None gnomAD-3.1.2 1.97E-05
34205 69 G/D 152 rs367926247 0.1631 None gnomAD-4.0.0 7.80745E-05
34205 69 G/S 152 None 0.1631 None gnomAD-4.0.0 1.59103E-06
34206 70 T/I 153 rs767516936 0.3504 None gnomAD-2.1.1 8.03E-06
34206 70 T/I 153 rs767516936 0.3504 None gnomAD-4.0.0 1.59103E-06
34207 71 Y/H 154 None 0.097 None gnomAD-4.0.0 1.20032E-06
34209 73 C/R 156 None 0.0824 None gnomAD-4.0.0 1.20032E-06
34210 74 K/N 157 None 0.2287 None gnomAD-4.0.0 1.59104E-06
34213 77 N/S 161 rs375332499 0.1111 None gnomAD-2.1.1 8.03E-06
34213 77 N/S 161 rs375332499 0.1111 None gnomAD-3.1.2 1.31E-05
34213 77 N/S 161 rs375332499 0.1111 None gnomAD-4.0.0 3.0982E-06
34214 78 D/E 162 rs766760792 0.743 None gnomAD-2.1.1 1.61E-05
34214 78 D/E 162 rs766760792 0.743 None gnomAD-4.0.0 9.54654E-06
34215 79 Y/C 163 rs2154135557 0.6878 None gnomAD-4.0.0 3.18211E-06
34216 80 G/D 164 None 0.2462 None gnomAD-4.0.0 1.36835E-06
34216 80 G/S 164 rs1332571612 0.2462 None gnomAD-2.1.1 1.2E-05
34216 80 G/S 164 rs1332571612 0.2462 None gnomAD-4.0.0 4.77328E-06
34219 83 S/G 168 None 0.1819 None gnomAD-4.0.0 2.40064E-06
34219 83 S/R 168 rs370077023 0.1819 None gnomAD-2.1.1 1.46235E-04
34219 83 S/R 168 rs370077023 0.1819 None gnomAD-3.1.2 4.73155E-04
34219 83 S/R 168 rs370077023 0.1819 None 1000 genomes 1.99681E-04
34219 83 S/R 168 rs370077023 0.1819 None gnomAD-4.0.0 9.17039E-05
34220 84 S/A 169 rs763863092 0.1364 None gnomAD-2.1.1 1.43E-05
34220 84 S/A 169 rs763863092 0.1364 None gnomAD-3.1.2 5.91E-05
34220 84 S/A 169 rs763863092 0.1364 None gnomAD-4.0.0 1.53713E-05
34224 88 L/I 174 None 0.0852 None gnomAD-4.0.0 1.59123E-06
34226 90 V/L 178 None 0.2372 None gnomAD-4.0.0 2.40064E-06