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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8264 1 P/A 1 None 0.1540 None gnomAD-4.0.0 1.63066E-06
8264 1 P/L 1 rs1235369035 0.1540 None gnomAD-2.1.1 8.38E-06
8264 1 P/L 1 rs1235369035 0.1540 None gnomAD-4.0.0 4.14748E-06
8265 2 Y/N 2 None 0.4846 None gnomAD-4.0.0 1.6283E-06
8266 3 F/Y 3 rs768252647 0.1707 None gnomAD-2.1.1 8.33E-06
8266 3 F/Y 3 rs768252647 0.1707 None gnomAD-4.0.0 1.78772E-05
8267 4 I/F 4 rs534974639 0.6069 None gnomAD-2.1.1 8.33E-06
8267 4 I/F 4 rs534974639 0.6069 None gnomAD-3.1.2 1.97E-05
8267 4 I/F 4 rs534974639 0.6069 None 1000 genomes 3.99361E-04
8267 4 I/F 4 rs534974639 0.6069 None gnomAD-4.0.0 6.87145E-06
8267 4 I/T 4 None 0.6069 None gnomAD-4.0.0 1.62361E-06
8269 6 P/L 7 rs960099770 0.4535 None gnomAD-4.0.0 1.62141E-06
8271 8 E/K 9 None 0.7731 None gnomAD-4.0.0 4.13603E-06
8271 8 E/Q 9 None 0.7731 None gnomAD-4.0.0 6.89338E-07
8272 9 H/L 11 None 0.6108 None gnomAD-4.0.0 6.88821E-07
8272 9 H/P 11 rs1299797032 0.6108 None gnomAD-2.1.1 4.13E-06
8272 9 H/P 11 rs1299797032 0.6108 None gnomAD-4.0.0 1.37764E-06
8272 9 H/Q 11 None 0.6108 None gnomAD-4.0.0 1.61603E-06
8272 9 H/Y 11 None 0.6108 None gnomAD-4.0.0 2.068E-06
8273 10 V/A 13 None 0.2964 None gnomAD-4.0.0 1.20032E-06
8273 10 V/M 13 None 0.2964 None gnomAD-4.0.0 1.61611E-06
8274 11 E/K 14 rs72648981 0.8341 None gnomAD-2.1.1 2.30508E-03
8274 11 E/K 14 rs72648981 0.8341 None gnomAD-3.1.2 2.32668E-03
8274 11 E/K 14 rs72648981 0.8341 None 1000 genomes 5.99042E-04
8274 11 E/K 14 rs72648981 0.8341 None gnomAD-4.0.0 2.97975E-03
8275 12 A/T 16 rs771947778 0.2881 None gnomAD-2.1.1 4.13E-06
8275 12 A/T 16 rs771947778 0.2881 None gnomAD-4.0.0 1.10167E-05
8277 14 I/T 23 rs745818162 0.7584 None gnomAD-2.1.1 1.1E-05
8277 14 I/T 23 rs745818162 0.7584 None gnomAD-3.1.2 6.57E-06
8277 14 I/T 23 rs745818162 0.7584 None gnomAD-4.0.0 7.7693E-06
8278 15 G/A 24 rs778611558 0.2506 None gnomAD-2.1.1 4.75E-05
8278 15 G/A 24 rs778611558 0.2506 None gnomAD-3.1.2 3.29E-05
8278 15 G/A 24 rs778611558 0.2506 None gnomAD-4.0.0 3.36686E-05
8278 15 G/R 24 rs1406754899 0.2506 None gnomAD-2.1.1 4.12E-06
8278 15 G/R 24 rs1406754899 0.2506 None gnomAD-4.0.0 1.6128E-06
8280 17 P/L 26 rs375219172 0.4169 None gnomAD-2.1.1 8.23E-06
8280 17 P/L 26 rs375219172 0.4169 None gnomAD-3.1.2 6.57E-06
8280 17 P/L 26 rs375219172 0.4169 None gnomAD-4.0.0 8.09428E-06
8280 17 P/R 26 rs375219172 0.4169 None gnomAD-3.1.2 1.31E-05
8280 17 P/R 26 rs375219172 0.4169 None gnomAD-4.0.0 1.86791E-06
8281 18 A/E 28 rs1474165122 0.2053 None gnomAD-2.1.1 8.22E-06
8281 18 A/E 28 rs1474165122 0.2053 None gnomAD-4.0.0 4.83065E-06
8281 18 A/T 28 rs2077783832 0.2053 None gnomAD-4.0.0 1.61075E-06
8282 19 T/A 29 rs2077783131 0.6361 None gnomAD-4.0.0 4.80129E-06
8282 19 T/I 29 None 0.6361 None gnomAD-4.0.0 1.20032E-06
8283 20 L/F 30 rs1454021604 0.1370 None gnomAD-3.1.2 6.57E-06
8283 20 L/F 30 rs1454021604 0.1370 None gnomAD-4.0.0 3.73346E-06
8283 20 L/V 30 rs1408912599 0.1370 None gnomAD-3.1.2 6.57E-06
8283 20 L/V 30 rs1408912599 0.1370 None gnomAD-4.0.0 6.57151E-06
8284 21 Q/E 31 None 0.4974 None gnomAD-4.0.0 2.40066E-06
8284 21 Q/L 31 None 0.4974 None gnomAD-4.0.0 3.21576E-06
8285 22 C/G 33 rs757040162 0.0981 None gnomAD-2.1.1 4.1E-06
8285 22 C/R 33 None 0.0981 None gnomAD-4.0.0 6.87163E-07
8285 22 C/S 33 rs757040162 0.0981 None gnomAD-2.1.1 4.1E-06
8285 22 C/S 33 rs757040162 0.0981 None gnomAD-4.0.0 1.37433E-06
8286 23 K/E 34 rs1454054276 0.3835 None gnomAD-2.1.1 4.1E-06
8286 23 K/E 34 rs1454054276 0.3835 None gnomAD-4.0.0 3.50342E-05
8286 23 K/Q 34 rs1454054276 0.3835 None gnomAD-4.0.0 1.37389E-06
8286 23 K/R 34 None 0.3835 None gnomAD-4.0.0 6.86896E-07
8287 24 V/A 35 rs2077779717 0.1183 None gnomAD-4.0.0 1.60527E-06
8288 25 D/G 38 None 0.3627 None gnomAD-4.0.0 1.20033E-06
8288 25 D/N 38 rs372538009 0.3627 None gnomAD-3.1.2 6.57E-06
8288 25 D/N 38 rs372538009 0.3627 None gnomAD-4.0.0 2.57995E-06
8290 27 T/N 41 None 0.5419 None gnomAD-4.0.0 1.6026E-06
8291 28 P/T 42 None 0.6017 None gnomAD-4.0.0 1.60168E-06
8292 29 E/Q 43 rs778030351 0.8549 None gnomAD-2.1.1 8.13E-06
8292 29 E/Q 43 rs778030351 0.8549 None gnomAD-4.0.0 4.80143E-06
8294 31 R/G 45 rs72648982 0.8344 None gnomAD-2.1.1 2.17258E-02
8294 31 R/G 45 rs72648982 0.8344 None gnomAD-3.1.2 2.06025E-02
8294 31 R/G 45 rs72648982 0.8344 None 1000 genomes 1.21805E-02
8294 31 R/G 45 rs72648982 0.8344 None gnomAD-4.0.0 2.73513E-02
8295 32 I/N 46 rs752786293 0.1745 None gnomAD-2.1.1 8.09E-06
8295 32 I/N 46 rs752786293 0.1745 None gnomAD-4.0.0 6.38857E-06
8296 33 S/P 47 None 0.1799 None gnomAD-4.0.0 6.85202E-07
8296 33 S/T 47 rs767731986 0.1799 None gnomAD-2.1.1 1.21E-05
8296 33 S/T 47 rs767731986 0.1799 None gnomAD-3.1.2 6.57E-06
8296 33 S/T 47 rs767731986 0.1799 None gnomAD-4.0.0 2.48203E-06
8297 34 W/C 48 rs727504205 0.1195 None gnomAD-4.0.0 2.05508E-06
8299 36 K/E 50 rs2077774413 0.1768 None gnomAD-3.1.2 6.57E-06
8299 36 K/E 50 rs2077774413 0.1768 None gnomAD-4.0.0 6.57255E-06
8299 36 K/R 50 None 0.1768 None gnomAD-4.0.0 1.36967E-06
8300 37 E/D 51 rs1438429191 0.6243 None gnomAD-2.1.1 4.03E-06
8300 37 E/D 51 rs1438429191 0.6243 None gnomAD-4.0.0 6.8472E-07
8300 37 E/K 51 rs1300968279 0.6243 None gnomAD-3.1.2 6.58E-06
8300 37 E/K 51 rs1300968279 0.6243 None gnomAD-4.0.0 6.57583E-06
8300 37 E/Q 51 rs1300968279 0.6243 None gnomAD-2.1.1 4.03E-06
8300 37 E/Q 51 rs1300968279 0.6243 None gnomAD-3.1.2 6.58E-06
8300 37 E/Q 51 rs1300968279 0.6243 None gnomAD-4.0.0 5.13343E-06
8301 38 H/L 52 rs763397399 0.8512 None gnomAD-2.1.1 4.03E-06
8301 38 H/L 52 rs763397399 0.8512 None gnomAD-4.0.0 1.59372E-06
8301 38 H/N 52 rs375389220 0.8512 None gnomAD-3.1.2 6.57E-06
8301 38 H/N 52 rs375389220 0.8512 None 1000 genomes 1.99681E-04
8301 38 H/N 52 rs375389220 0.8512 None gnomAD-4.0.0 6.56901E-06
8301 38 H/Y 52 rs375389220 0.8512 None gnomAD-2.1.1 4.03E-06
8301 38 H/Y 52 rs375389220 0.8512 None gnomAD-4.0.0 2.05425E-06
8302 39 T/A 55 None 0.4148 None gnomAD-4.0.0 6.84604E-07
8302 39 T/K 55 rs549604128 0.4148 None gnomAD-2.1.1 8.94E-05
8302 39 T/K 55 rs549604128 0.4148 None gnomAD-3.1.2 5.26E-05
8302 39 T/K 55 rs549604128 0.4148 None 1000 genomes 3.99361E-04
8302 39 T/K 55 rs549604128 0.4148 None gnomAD-4.0.0 2.23197E-05
8302 39 T/S 55 None 0.4148 None gnomAD-4.0.0 6.84604E-07
8305 42 R/Q 59 rs759985618 0.5338 None gnomAD-2.1.1 5.23E-05
8305 42 R/Q 59 rs759985618 0.5338 None gnomAD-3.1.2 6.58E-06
8305 42 R/Q 59 rs759985618 0.5338 None gnomAD-4.0.0 3.34745E-05
8306 43 S/L 70 rs776712129 0.5712 None gnomAD-2.1.1 4.02E-06
8306 43 S/L 70 rs776712129 0.5712 None gnomAD-3.1.2 6.57E-06
8306 43 S/L 70 rs776712129 0.5712 None gnomAD-4.0.0 1.36365E-05
8307 44 A/G 73 rs2077769834 0.3233 None gnomAD-4.0.0 1.20032E-06
8308 45 P/S 102 rs373770383 0.8927 None gnomAD-2.1.1 4.64E-05
8308 45 P/S 102 rs373770383 0.8927 None gnomAD-3.1.2 1.38053E-04
8308 45 P/S 102 rs373770383 0.8927 None gnomAD-4.0.0 2.23131E-05
8309 46 A/E 115 rs186598275 0.2881 None gnomAD-2.1.1 4.02E-06
8309 46 A/E 115 rs186598275 0.2881 None gnomAD-3.1.2 6.57E-06
8309 46 A/E 115 rs186598275 0.2881 None gnomAD-4.0.0 6.5678E-06
8309 46 A/V 115 rs186598275 0.2881 None gnomAD-2.1.1 4.02E-06
8309 46 A/V 115 rs186598275 0.2881 None gnomAD-3.1.2 6.57E-06
8309 46 A/V 115 rs186598275 0.2881 None gnomAD-4.0.0 6.5678E-06
8310 47 Y/C 121 rs879064808 0.2394 None gnomAD-2.1.1 4.02E-06
8310 47 Y/C 121 rs879064808 0.2394 None gnomAD-4.0.0 3.42137E-06
8310 47 Y/H 121 None 0.2394 None gnomAD-4.0.0 6.84287E-07
8310 47 Y/N 121 rs397517511 0.2394 None gnomAD-2.1.1 1.21E-05
8310 47 Y/N 121 rs397517511 0.2394 None gnomAD-3.1.2 1.31E-05
8310 47 Y/N 121 rs397517511 0.2394 None gnomAD-4.0.0 4.33831E-06
8311 48 K/N 122 rs749075617 0.5229 None gnomAD-2.1.1 4.02E-06
8311 48 K/N 122 rs749075617 0.5229 None gnomAD-4.0.0 1.59155E-06
8312 49 M/I 123 None 0.2664 None gnomAD-4.0.0 1.59157E-06
8312 49 M/T 123 rs756314449 0.2664 None gnomAD-2.1.1 4.02E-06
8312 49 M/T 123 rs756314449 0.2664 None gnomAD-3.1.2 6.57E-06
8312 49 M/T 123 rs756314449 0.2664 None gnomAD-4.0.0 5.12522E-06
8312 49 M/V 123 rs777456359 0.2664 None gnomAD-2.1.1 4.02E-06
8312 49 M/V 123 rs777456359 0.2664 None gnomAD-4.0.0 1.59155E-06
8314 51 F/L 127 rs570367600 0.2327 None gnomAD-2.1.1 1.61E-05
8314 51 F/L 127 rs570367600 0.2327 None gnomAD-3.1.2 6.57E-06
8314 51 F/L 127 rs570367600 0.2327 None 1000 genomes 1.99681E-04
8314 51 F/L 127 rs570367600 0.2327 None gnomAD-4.0.0 1.11405E-05
8317 54 N/I 134 rs1278554973 0.5014 None gnomAD-2.1.1 4.02E-06
8317 54 N/I 134 rs1278554973 0.5014 None gnomAD-4.0.0 4.10542E-06
8317 54 N/K 134 rs370154022 0.5014 None gnomAD-2.1.1 1.61E-05
8317 54 N/K 134 rs370154022 0.5014 None gnomAD-3.1.2 7.89E-05
8317 54 N/K 134 rs370154022 0.5014 None gnomAD-4.0.0 1.11553E-05
8318 55 V/I 135 rs200103997 0.1834 None gnomAD-2.1.1 5.74659E-04
8318 55 V/I 135 rs200103997 0.1834 None gnomAD-3.1.2 5.45572E-04
8318 55 V/I 135 rs200103997 0.1834 None 1000 genomes 1.99681E-04
8318 55 V/I 135 rs200103997 0.1834 None gnomAD-4.0.0 7.49198E-04
8319 56 A/P 136 None 0.0930 None gnomAD-4.0.0 4.80129E-06
8319 56 A/T 136 rs2077763797 0.0930 None gnomAD-3.1.2 6.57E-06
8319 56 A/T 136 rs2077763797 0.0930 None gnomAD-4.0.0 6.57263E-06
8319 56 A/V 136 None 0.0930 None gnomAD-4.0.0 2.40064E-06
8320 57 S/C 137 rs1374151646 0.1446 None gnomAD-3.1.2 1.31E-05
8320 57 S/C 137 rs1374151646 0.1446 None gnomAD-4.0.0 1.31377E-05
8320 57 S/F 137 rs1374151646 0.1446 None gnomAD-2.1.1 4.02E-06
8320 57 S/F 137 rs1374151646 0.1446 None gnomAD-4.0.0 4.77415E-06
8322 59 V/A 139 None 0.2617 None gnomAD-4.0.0 4.77412E-06
8322 59 V/I 139 rs201571580 0.2617 None gnomAD-2.1.1 4.02E-06
8322 59 V/I 139 rs201571580 0.2617 None gnomAD-4.0.0 6.84232E-07
8322 59 V/L 139 rs201571580 0.2617 None gnomAD-2.1.1 5.88962E-04
8322 59 V/L 139 rs201571580 0.2617 None gnomAD-3.1.2 4.86349E-04
8322 59 V/L 139 rs201571580 0.2617 None gnomAD-4.0.0 6.38259E-04
8324 61 N/K 141 rs879030954 0.5461 None gnomAD-4.0.0 4.10537E-06
8325 62 K/E 143 rs72648984 0.6672 None gnomAD-2.1.1 5.58292E-03
8325 62 K/E 143 rs72648984 0.6672 None gnomAD-3.1.2 4.66442E-03
8325 62 K/E 143 rs72648984 0.6672 None 1000 genomes 1.59744E-03
8325 62 K/E 143 rs72648984 0.6672 None gnomAD-4.0.0 5.69265E-03
8325 62 K/N 143 rs373995644 0.6672 None gnomAD-2.1.1 4.02E-06
8327 64 D/V 145 None 0.2791 None gnomAD-4.0.0 1.5914E-06
8328 65 H/N 146 rs767212475 0.8645 None gnomAD-2.1.1 4.02E-06
8329 66 S/G 148 None 0.5410 None gnomAD-4.0.0 2.40064E-06
8329 66 S/N 148 None 0.5410 None gnomAD-4.0.0 4.78965E-06
8330 67 D/H 149 None 0.1418 None gnomAD-4.0.0 1.20032E-06
8331 68 V/E 151 rs773888026 0.2797 None gnomAD-2.1.1 4.02E-06
8331 68 V/E 151 rs773888026 0.2797 None gnomAD-4.0.0 1.20032E-06
8332 69 G/E 152 rs2077756630 0.2195 None gnomAD-3.1.2 6.57E-06
8332 69 G/E 152 rs2077756630 0.2195 None gnomAD-4.0.0 6.57212E-06
8333 70 E/D 153 rs1438182051 0.5040 None gnomAD-2.1.1 3.18E-05
8333 70 E/D 153 rs1438182051 0.5040 None gnomAD-3.1.2 6.57E-06
8333 70 E/D 153 rs1438182051 0.5040 None gnomAD-4.0.0 2.56224E-06
8333 70 E/G 153 rs770811407 0.5040 None gnomAD-2.1.1 4.02E-06
8333 70 E/G 153 rs770811407 0.5040 None gnomAD-4.0.0 7.95689E-06
8335 72 S/A 155 rs773006091 0.2275 None gnomAD-2.1.1 4.02E-06
8335 72 S/A 155 rs773006091 0.2275 None gnomAD-4.0.0 6.84237E-07
8335 72 S/T 155 None 0.2275 None gnomAD-4.0.0 6.84237E-07
8336 73 C/G 156 None 0.0714 None gnomAD-4.0.0 1.20032E-06
8336 73 C/S 156 None 0.0714 None gnomAD-4.0.0 1.20032E-06
8339 76 D/E 159 rs1283273345 0.3546 None gnomAD-2.1.1 4.02E-06
8339 76 D/E 159 rs1283273345 0.3546 None gnomAD-4.0.0 4.77458E-06
8340 77 N/S 161 None 0.1707 None gnomAD-4.0.0 2.40064E-06
8341 78 S/R 162 rs1221926854 0.6272 None gnomAD-2.1.1 4.02E-06
8341 78 S/R 162 rs1221926854 0.6272 None gnomAD-4.0.0 6.84318E-07
8343 80 G/A 164 rs1288642142 0.2637 None gnomAD-2.1.1 4.02E-06
8343 80 G/A 164 rs1288642142 0.2637 None gnomAD-4.0.0 1.59204E-06
8344 81 A/E 165 rs748045267 0.3413 None gnomAD-2.1.1 4.03E-06
8344 81 A/E 165 rs748045267 0.3413 None gnomAD-4.0.0 1.59253E-06
8344 81 A/T 165 rs2077751372 0.3413 None gnomAD-4.0.0 1.36876E-06
8345 82 V/A 166 None 0.1191 None gnomAD-4.0.0 6.37397E-06
8346 83 A/T 168 rs755302381 0.2884 None gnomAD-2.1.1 2.01E-05
8346 83 A/T 168 rs755302381 0.2884 None gnomAD-3.1.2 1.31E-05
8346 83 A/T 168 rs755302381 0.2884 None gnomAD-4.0.0 8.06179E-06
8346 83 A/V 168 rs747055472 0.2884 None gnomAD-2.1.1 4.03E-06
8346 83 A/V 168 rs747055472 0.2884 None gnomAD-4.0.0 1.5941E-06
8347 84 S/P 169 rs1345180729 0.1278 None gnomAD-2.1.1 4.03E-06
8347 84 S/P 169 rs1345180729 0.1278 None gnomAD-4.0.0 1.59401E-06
8349 86 A/G 172 rs397517513 0.0950 None gnomAD-2.1.1 1.79E-05
8349 86 A/G 172 rs397517513 0.0950 None gnomAD-3.1.2 1.97E-05
8349 86 A/G 172 rs397517513 0.0950 None gnomAD-4.0.0 3.597E-05
8349 86 A/P 172 rs1459194268 0.0950 None gnomAD-2.1.1 4.03E-06
8349 86 A/P 172 rs1459194268 0.0950 None gnomAD-4.0.0 1.59459E-06
8349 86 A/V 172 rs397517513 0.0950 None gnomAD-3.1.2 1.97E-05
8349 86 A/V 172 rs397517513 0.0950 None gnomAD-4.0.0 1.9714E-05
8350 87 V/A 173 rs915984764 0.1905 None gnomAD-4.0.0 2.0553E-06
8350 87 V/M 173 None 0.1905 None gnomAD-3.1.2 6.57E-06
8350 87 V/M 173 None 0.1905 None gnomAD-4.0.0 6.5722E-06
8352 89 V/L 175 rs750897859 0.3289 None gnomAD-2.1.1 4.04E-06
8352 89 V/L 175 rs750897859 0.3289 None gnomAD-4.0.0 9.58653E-06
8353 90 I/N 177 None 1.0303 None gnomAD-4.0.0 1.59872E-06
8353 90 I/V 177 None 1.0303 None gnomAD-4.0.0 1.37112E-06