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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33204 2 E/D 9 None 0.7069 None gnomAD-4.0.0 3.60097E-06
33204 2 E/K 9 rs1490008675 0.7069 None gnomAD-2.1.1 8.04E-06
33204 2 E/K 9 rs1490008675 0.7069 None gnomAD-4.0.0 2.05285E-06
33204 2 E/V 9 None 0.7069 None gnomAD-4.0.0 1.59162E-06
33206 4 Y/D 13 None 0.2501 None gnomAD-4.0.0 3.18333E-06
33206 4 Y/H 13 None 0.2501 None gnomAD-4.0.0 1.59167E-06
33208 6 G/R 16 None 0.2130 None gnomAD-4.0.0 1.20032E-06
33209 7 A/D 18 None 0.2891 None gnomAD-4.0.0 1.20032E-06
33209 7 A/P 18 rs1244887390 0.2891 None gnomAD-2.1.1 4.02E-06
33209 7 A/P 18 rs1244887390 0.2891 None gnomAD-4.0.0 3.18307E-06
33210 8 V/G 23 rs1482941539 0.2062 None gnomAD-2.1.1 3.19E-05
33210 8 V/M 23 None 0.2062 None gnomAD-4.0.0 1.20032E-06
33211 9 G/D 24 None 0.2782 None gnomAD-4.0.0 1.59146E-06
33211 9 G/R 24 None 0.2782 None gnomAD-4.0.0 1.36849E-06
33211 9 G/S 24 rs1553504771 0.2782 None gnomAD-4.0.0 3.42122E-06
33212 10 S/C 25 None 0.2729 None gnomAD-4.0.0 1.20032E-06
33212 10 S/P 25 rs1692192706 0.2729 None gnomAD-3.1.2 6.57E-06
33212 10 S/P 25 rs1692192706 0.2729 None gnomAD-4.0.0 6.57065E-06
33213 11 T/I 26 None 0.3235 None gnomAD-4.0.0 1.59133E-06
33215 13 R/P 29 rs373182320 0.3919 None gnomAD-2.1.1 4.02E-06
33215 13 R/P 29 rs373182320 0.3919 None gnomAD-4.0.0 2.73691E-06
33215 13 R/Q 29 rs373182320 0.3919 None gnomAD-2.1.1 2.14E-05
33215 13 R/Q 29 rs373182320 0.3919 None gnomAD-3.1.2 6.57E-06
33215 13 R/Q 29 rs373182320 0.3919 None gnomAD-4.0.0 1.36339E-05
33215 13 R/W 29 rs377598016 0.3919 None gnomAD-2.1.1 5.22E-05
33215 13 R/W 29 rs377598016 0.3919 None gnomAD-3.1.2 3.29E-05
33215 13 R/W 29 rs377598016 0.3919 None gnomAD-4.0.0 5.76281E-05
33218 16 V/I 33 rs1692185299 0.1346 None gnomAD-4.0.0 2.66855E-05
33219 17 M/I 34 None 0.1393 None gnomAD-4.0.0 1.36849E-06
33219 17 M/R 34 None 0.1393 None gnomAD-4.0.0 6.84242E-07
33219 17 M/T 34 rs1692183695 0.1393 None gnomAD-3.1.2 6.57E-06
33219 17 M/T 34 rs1692183695 0.1393 None gnomAD-4.0.0 1.73516E-05
33220 18 Y/C 35 None 0.0800 None gnomAD-4.0.0 1.20032E-06
33220 18 Y/H 35 rs776277442 0.0800 None gnomAD-4.0.0 1.11401E-05
33221 19 I/L 38 rs938263270 0.1599 None gnomAD-4.0.0 6.84242E-07
33221 19 I/T 38 rs1306714947 0.1599 None gnomAD-4.0.0 4.78971E-06
33221 19 I/V 38 rs938263270 0.1599 None gnomAD-2.1.1 3.18E-05
33221 19 I/V 38 rs938263270 0.1599 None gnomAD-3.1.2 2.63E-05
33221 19 I/V 38 rs938263270 0.1599 None gnomAD-4.0.0 3.71827E-06
33222 20 G/S 40 rs926931010 0.0847 None gnomAD-2.1.1 3.19E-05
33222 20 G/S 40 rs926931010 0.0847 None gnomAD-3.1.2 3.29E-05
33222 20 G/S 40 rs926931010 0.0847 None gnomAD-4.0.0 6.09004E-06
33223 21 R/C 41 rs1367376217 0.0793 None gnomAD-2.1.1 1.07E-05
33223 21 R/C 41 rs1367376217 0.0793 None gnomAD-3.1.2 6.58E-06
33223 21 R/C 41 rs1367376217 0.0793 None gnomAD-4.0.0 2.47908E-06
33223 21 R/H 41 rs369081242 0.0793 None gnomAD-2.1.1 8.04E-05
33223 21 R/H 41 rs369081242 0.0793 None gnomAD-3.1.2 7.89E-05
33223 21 R/H 41 rs369081242 0.0793 None gnomAD-4.0.0 4.39996E-05
33224 22 P/S 42 rs879139495 0.1938 None gnomAD-2.1.1 7.14E-06
33224 22 P/S 42 rs879139495 0.1938 None gnomAD-3.1.2 6.57E-06
33224 22 P/S 42 rs879139495 0.1938 None gnomAD-4.0.0 6.4062E-06
33225 23 V/I 43 None 0.2738 None gnomAD-4.0.0 1.36851E-06
33226 24 P/S 44 None 0.1124 None gnomAD-4.0.0 1.59142E-06
33227 25 A/D 45 rs1430566252 0.1651 None gnomAD-2.1.1 3.19E-05
33227 25 A/D 45 rs1430566252 0.1651 None gnomAD-3.1.2 6.57E-06
33227 25 A/D 45 rs1430566252 0.1651 None gnomAD-4.0.0 6.57462E-06
33227 25 A/V 45 rs1430566252 0.1651 None gnomAD-2.1.1 8.04E-06
33227 25 A/V 45 rs1430566252 0.1651 None gnomAD-4.0.0 3.42123E-06
33228 26 M/I 46 None 0.0967 None gnomAD-4.0.0 2.40064E-06
33228 26 M/T 46 None 0.0967 None gnomAD-4.0.0 1.5914E-06
33228 26 M/V 46 None 0.0967 None gnomAD-4.0.0 1.59144E-06
33231 29 F/L 49 None 0.1100 None gnomAD-4.0.0 1.59138E-06
33232 30 H/Q 50 rs745799786 0.2480 None gnomAD-2.1.1 4.02E-06
33232 30 H/Q 50 rs745799786 0.2480 None gnomAD-4.0.0 2.05268E-06
33232 30 H/R 50 rs772035843 0.2480 None gnomAD-2.1.1 1.21E-05
33232 30 H/R 50 rs772035843 0.2480 None gnomAD-3.1.2 1.97E-05
33232 30 H/R 50 rs772035843 0.2480 None gnomAD-4.0.0 8.96822E-06
33233 31 G/D 51 rs1271698749 0.3892 None gnomAD-2.1.1 4.02E-06
33233 31 G/D 51 rs1271698749 0.3892 None gnomAD-4.0.0 1.59138E-06
33233 31 G/R 51 rs1479703303 0.3892 None gnomAD-2.1.1 4.02E-06
33233 31 G/R 51 rs1479703303 0.3892 None gnomAD-4.0.0 6.84235E-07
33233 31 G/S 51 rs1479703303 0.3892 None gnomAD-4.0.0 2.73694E-06
33234 32 Q/R 52 None 0.3118 None gnomAD-4.0.0 1.20032E-06
33235 33 K/E 55 None 0.4628 None gnomAD-4.0.0 1.5914E-06
33235 33 K/Q 55 rs774189985 0.4628 None gnomAD-2.1.1 4.02E-06
33241 39 E/K 109 rs1318192796 0.5506 None gnomAD-2.1.1 4.02E-06
33241 39 E/K 109 rs1318192796 0.5506 None gnomAD-4.0.0 3.18324E-06
33243 41 I/F 121 None 0.1660 None gnomAD-4.0.0 1.59163E-06
33244 42 T/I 122 rs1282327572 0.3397 None gnomAD-2.1.1 4.03E-06
33244 42 T/N 122 None 0.3397 None gnomAD-4.0.0 1.59177E-06
33245 43 I/T 123 rs749517808 0.1350 None gnomAD-2.1.1 8.05E-06
33245 43 I/T 123 rs749517808 0.1350 None gnomAD-3.1.2 2.63E-05
33245 43 I/T 123 rs749517808 0.1350 None gnomAD-4.0.0 1.05362E-05
33245 43 I/V 123 rs770654036 0.1350 None gnomAD-2.1.1 7.15E-06
33245 43 I/V 123 rs770654036 0.1350 None gnomAD-3.1.2 6.57E-06
33245 43 I/V 123 rs770654036 0.1350 None gnomAD-4.0.0 3.71854E-06
33246 44 E/A 125 rs1692148720 0.4699 None gnomAD-3.1.2 6.57E-06
33246 44 E/A 125 rs1692148720 0.4699 None gnomAD-4.0.0 6.57091E-06
33246 44 E/D 125 rs778016048 0.4699 None gnomAD-2.1.1 4.03E-06
33246 44 E/D 125 rs778016048 0.4699 None gnomAD-4.0.0 1.59186E-06
33248 46 T/S 130 rs1455373620 0.1532 None gnomAD-3.1.2 6.57E-06
33248 46 T/S 130 rs1455373620 0.1532 None gnomAD-4.0.0 6.57246E-06
33249 47 E/K 131 None 0.2721 None gnomAD-4.0.0 1.36878E-06
33250 48 H/R 134 rs1395830573 0.2590 None gnomAD-2.1.1 4.03E-06
33250 48 H/R 134 rs1395830573 0.2590 None gnomAD-4.0.0 3.18457E-06
33251 49 Y/C 135 rs377456237 0.2274 None gnomAD-2.1.1 7.16E-06
33251 49 Y/C 135 rs377456237 0.2274 None gnomAD-3.1.2 2.63E-05
33251 49 Y/C 135 rs377456237 0.2274 None gnomAD-4.0.0 4.33918E-06
33252 50 T/I 136 None 0.1139 None gnomAD-4.0.0 1.36887E-06
33253 51 H/P 137 None 0.1909 None gnomAD-4.0.0 1.36901E-06
33253 51 H/R 137 None 0.1909 None gnomAD-4.0.0 1.36899E-06
33255 53 V/I 139 rs1692136701 0.1437 None gnomAD-4.0.0 7.96536E-06
33256 54 M/I 140 rs752102823 0.1076 None gnomAD-2.1.1 2.02E-05
33256 54 M/I 140 rs752102823 0.1076 None gnomAD-4.0.0 7.96686E-06
33256 54 M/L 140 rs755612464 0.1076 None gnomAD-2.1.1 4.05E-06
33256 54 M/L 140 rs755612464 0.1076 None gnomAD-3.1.2 6.57E-06
33256 54 M/L 140 rs755612464 0.1076 None gnomAD-4.0.0 6.57004E-06
33257 55 K/T 141 rs766867347 0.3979 None gnomAD-2.1.1 3.59E-05
33257 55 K/T 141 rs766867347 0.3979 None gnomAD-3.1.2 6.57E-06
33257 55 K/T 141 rs766867347 0.3979 None gnomAD-4.0.0 6.81976E-06
33258 56 N/H 143 None 0.4590 None gnomAD-4.0.0 2.40065E-06
33261 59 R/C 146 rs1064797274 0.6546 None gnomAD-2.1.1 1.62E-05
33261 59 R/C 146 rs1064797274 0.6546 None gnomAD-3.1.2 1.32E-05
33261 59 R/C 146 rs1064797274 0.6546 None gnomAD-4.0.0 8.06246E-06
33261 59 R/H 146 rs373473754 0.6546 None gnomAD-2.1.1 1.08E-05
33261 59 R/H 146 rs373473754 0.6546 None gnomAD-3.1.2 1.32E-05
33261 59 R/H 146 rs373473754 0.6546 None gnomAD-4.0.0 6.2022E-06
33263 61 T/P 148 None 0.3574 None gnomAD-4.0.0 4.78444E-06
33263 61 T/S 148 rs369648529 0.3574 None gnomAD-2.1.1 1.22E-05
33263 61 T/S 148 rs369648529 0.3574 None gnomAD-3.1.2 2.63E-05
33263 61 T/S 148 rs369648529 0.3574 None 1000 genomes 1.99681E-04
33263 61 T/S 148 rs369648529 0.3574 None gnomAD-4.0.0 6.41634E-06
33264 62 H/Q 149 None 0.1837 None gnomAD-4.0.0 1.59875E-06
33265 63 A/T 151 None 0.1921 None gnomAD-4.0.0 6.8572E-07
33266 64 G/R 152 rs2154138225 0.2221 None gnomAD-4.0.0 3.20244E-06
33267 65 K/E 153 None 0.4908 None gnomAD-4.0.0 1.60197E-06
33268 66 Y/C 154 None 0.1116 None gnomAD-4.0.0 1.20032E-06
33268 66 Y/H 154 None 0.1116 None gnomAD-4.0.0 1.20032E-06
33269 67 K/R 155 None 0.1601 None gnomAD-4.0.0 1.60617E-06
33271 69 Q/H 157 rs1201464356 0.1518 None gnomAD-2.1.1 4.09E-06
33271 69 Q/H 157 rs1201464356 0.1518 None gnomAD-4.0.0 1.61262E-06
33271 69 Q/P 157 rs1262109870 0.1518 None gnomAD-2.1.1 4.08E-06
33271 69 Q/P 157 rs1262109870 0.1518 None gnomAD-4.0.0 1.61091E-06
33272 70 L/F 158 rs397517780 0.0860 None gnomAD-2.1.1 4.09E-06
33272 70 L/F 158 rs397517780 0.0860 None gnomAD-4.0.0 1.5824E-05
33273 71 S/I 159 rs774208494 0.1199 None gnomAD-3.1.2 6.58E-06
33273 71 S/I 159 rs774208494 0.1199 None gnomAD-4.0.0 1.87559E-06
33274 72 N/H 161 None 0.0999 None gnomAD-4.0.0 6.90743E-07
33274 72 N/T 161 None 0.0999 None gnomAD-4.0.0 1.62711E-06
33274 72 N/Y 161 None 0.0999 None gnomAD-4.0.0 1.38149E-06
33276 74 F/Y 163 rs1159073081 0.3211 None gnomAD-2.1.1 3.18E-05
33276 74 F/Y 163 rs1159073081 0.3211 None gnomAD-3.1.2 6.57E-06
33276 74 F/Y 163 rs1159073081 0.3211 None gnomAD-4.0.0 8.11929E-06
33277 75 G/A 164 rs397517781 0.1857 None gnomAD-2.1.1 4.19E-06
33277 75 G/A 164 rs397517781 0.1857 None gnomAD-3.1.2 1.32E-05
33277 75 G/A 164 rs397517781 0.1857 None gnomAD-4.0.0 8.15334E-06
33277 75 G/E 164 rs397517781 0.1857 None gnomAD-2.1.1 9.12967E-04
33277 75 G/E 164 rs397517781 0.1857 None gnomAD-3.1.2 2.56508E-04
33277 75 G/E 164 rs397517781 0.1857 None 1000 genomes 1.79712E-03
33277 75 G/E 164 rs397517781 0.1857 None gnomAD-4.0.0 4.48402E-04
33278 76 T/A 165 rs749065018 0.4193 None gnomAD-2.1.1 4.19E-06
33278 76 T/R 165 rs772862798 0.4193 None gnomAD-2.1.1 8.41E-06
33278 76 T/R 165 rs772862798 0.4193 None gnomAD-4.0.0 3.28861E-06
33279 77 V/A 166 rs770098799 0.1936 None gnomAD-2.1.1 4.25E-06
33279 77 V/A 166 rs770098799 0.1936 None gnomAD-4.0.0 3.30536E-06
33279 77 V/G 166 rs770098799 0.1936 None gnomAD-2.1.1 4.25E-06
33279 77 V/G 166 rs770098799 0.1936 None gnomAD-3.1.2 1.31E-05
33279 77 V/G 166 rs770098799 0.1936 None gnomAD-4.0.0 3.96173E-06
33280 78 D/E 168 rs375178211 0.3772 None gnomAD-2.1.1 4.29E-06
33280 78 D/E 168 rs375178211 0.3772 None gnomAD-3.1.2 6.57E-06
33280 78 D/E 168 rs375178211 0.3772 None gnomAD-4.0.0 6.56996E-06
33280 78 D/H 168 rs748316295 0.3772 None gnomAD-2.1.1 4.27E-06
33280 78 D/H 168 rs748316295 0.3772 None gnomAD-4.0.0 4.87148E-06
33281 79 A/T 169 None 0.1569 None gnomAD-4.0.0 6.97564E-07
33282 80 I/T 171 rs747546215 0.5339 None gnomAD-2.1.1 4.6E-06
33282 80 I/T 171 rs747546215 0.5339 None gnomAD-3.1.2 1.31E-05
33282 80 I/T 171 rs747546215 0.5339 None gnomAD-4.0.0 5.44553E-06
33284 82 D/E 173 None 0.2618 None gnomAD-4.0.0 7.10619E-07
33284 82 D/H 173 None 0.2618 None gnomAD-4.0.0 7.10201E-07
33285 83 V/E 174 None 0.1236 None gnomAD-4.0.0 1.76837E-06
33285 83 V/G 174 rs1173561652 0.1236 None gnomAD-2.1.1 4.93E-06
33285 83 V/G 174 rs1173561652 0.1236 None gnomAD-4.0.0 1.76837E-06
33285 83 V/L 174 None 0.1236 None gnomAD-4.0.0 1.74938E-06
33285 83 V/M 174 None 0.1236 None gnomAD-4.0.0 3.49877E-06
33286 84 E/D 175 rs1362585366 0.3863 None gnomAD-2.1.1 5.03E-06
33286 84 E/K 175 rs780655169 0.3863 None gnomAD-2.1.1 1.5E-05
33286 84 E/K 175 rs780655169 0.3863 None gnomAD-3.1.2 6.58E-06
33286 84 E/K 175 rs780655169 0.3863 None gnomAD-4.0.0 7.75374E-06
33287 85 I/M 177 rs758948672 0.1184 None gnomAD-2.1.1 1.54E-05
33287 85 I/M 177 rs758948672 0.1184 None gnomAD-4.0.0 5.36517E-06