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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8264 1 P/A 1 None 0.1891 None gnomAD-4.0.0 1.63066E-06
8264 1 P/L 1 rs1235369035 0.1891 None gnomAD-2.1.1 8.38E-06
8264 1 P/L 1 rs1235369035 0.1891 None gnomAD-4.0.0 4.14748E-06
8265 2 Y/N 2 None 0.4456 None gnomAD-4.0.0 1.6283E-06
8266 3 F/Y 3 rs768252647 0.2025 None gnomAD-2.1.1 8.33E-06
8266 3 F/Y 3 rs768252647 0.2025 None gnomAD-4.0.0 1.78772E-05
8267 4 I/F 4 rs534974639 0.3214 None gnomAD-2.1.1 8.33E-06
8267 4 I/F 4 rs534974639 0.3214 None gnomAD-3.1.2 1.97E-05
8267 4 I/F 4 rs534974639 0.3214 None 1000 genomes 3.99361E-04
8267 4 I/F 4 rs534974639 0.3214 None gnomAD-4.0.0 6.87145E-06
8267 4 I/T 4 None 0.3214 None gnomAD-4.0.0 1.62361E-06
8269 6 P/L 7 rs960099770 0.5172 None gnomAD-4.0.0 1.62141E-06
8271 8 E/K 9 None 0.8989 None gnomAD-4.0.0 4.13603E-06
8271 8 E/Q 9 None 0.8989 None gnomAD-4.0.0 6.89338E-07
8272 9 H/L 11 None 0.7334 None gnomAD-4.0.0 6.88821E-07
8272 9 H/P 11 rs1299797032 0.7334 None gnomAD-2.1.1 4.13E-06
8272 9 H/P 11 rs1299797032 0.7334 None gnomAD-4.0.0 1.37764E-06
8272 9 H/Q 11 None 0.7334 None gnomAD-4.0.0 1.61603E-06
8272 9 H/Y 11 None 0.7334 None gnomAD-4.0.0 2.068E-06
8273 10 V/A 13 None 0.2956 None gnomAD-4.0.0 1.20032E-06
8273 10 V/M 13 None 0.2956 None gnomAD-4.0.0 1.61611E-06
8274 11 E/K 14 rs72648981 0.6185 None gnomAD-2.1.1 2.30508E-03
8274 11 E/K 14 rs72648981 0.6185 None gnomAD-3.1.2 2.32668E-03
8274 11 E/K 14 rs72648981 0.6185 None 1000 genomes 5.99042E-04
8274 11 E/K 14 rs72648981 0.6185 None gnomAD-4.0.0 2.97975E-03
8275 12 A/T 16 rs771947778 0.1998 None gnomAD-2.1.1 4.13E-06
8275 12 A/T 16 rs771947778 0.1998 None gnomAD-4.0.0 1.10167E-05
8277 14 I/T 23 rs745818162 0.4188 None gnomAD-2.1.1 1.1E-05
8277 14 I/T 23 rs745818162 0.4188 None gnomAD-3.1.2 6.57E-06
8277 14 I/T 23 rs745818162 0.4188 None gnomAD-4.0.0 7.7693E-06
8278 15 G/A 24 rs778611558 0.2723 None gnomAD-2.1.1 4.75E-05
8278 15 G/A 24 rs778611558 0.2723 None gnomAD-3.1.2 3.29E-05
8278 15 G/A 24 rs778611558 0.2723 None gnomAD-4.0.0 3.36686E-05
8278 15 G/R 24 rs1406754899 0.2723 None gnomAD-2.1.1 4.12E-06
8278 15 G/R 24 rs1406754899 0.2723 None gnomAD-4.0.0 1.6128E-06
8280 17 P/L 26 rs375219172 0.5550 None gnomAD-2.1.1 8.23E-06
8280 17 P/L 26 rs375219172 0.5550 None gnomAD-3.1.2 6.57E-06
8280 17 P/L 26 rs375219172 0.5550 None gnomAD-4.0.0 8.09428E-06
8280 17 P/R 26 rs375219172 0.5550 None gnomAD-3.1.2 1.31E-05
8280 17 P/R 26 rs375219172 0.5550 None gnomAD-4.0.0 1.86791E-06
8281 18 A/E 28 rs1474165122 0.2094 None gnomAD-2.1.1 8.22E-06
8281 18 A/E 28 rs1474165122 0.2094 None gnomAD-4.0.0 4.83065E-06
8281 18 A/T 28 rs2077783832 0.2094 None gnomAD-4.0.0 1.61075E-06
8282 19 T/A 29 rs2077783131 0.4179 None gnomAD-4.0.0 4.80129E-06
8282 19 T/I 29 None 0.4179 None gnomAD-4.0.0 1.20032E-06
8283 20 L/F 30 rs1454021604 0.1496 None gnomAD-3.1.2 6.57E-06
8283 20 L/F 30 rs1454021604 0.1496 None gnomAD-4.0.0 3.73346E-06
8283 20 L/V 30 rs1408912599 0.1496 None gnomAD-3.1.2 6.57E-06
8283 20 L/V 30 rs1408912599 0.1496 None gnomAD-4.0.0 6.57151E-06
8284 21 Q/E 31 None 0.6362 None gnomAD-4.0.0 2.40066E-06
8284 21 Q/L 31 None 0.6362 None gnomAD-4.0.0 3.21576E-06
8285 22 C/G 33 rs757040162 0.1022 None gnomAD-2.1.1 4.1E-06
8285 22 C/R 33 None 0.1022 None gnomAD-4.0.0 6.87163E-07
8285 22 C/S 33 rs757040162 0.1022 None gnomAD-2.1.1 4.1E-06
8285 22 C/S 33 rs757040162 0.1022 None gnomAD-4.0.0 1.37433E-06
8286 23 K/E 34 rs1454054276 0.2805 None gnomAD-2.1.1 4.1E-06
8286 23 K/E 34 rs1454054276 0.2805 None gnomAD-4.0.0 3.50342E-05
8286 23 K/Q 34 rs1454054276 0.2805 None gnomAD-4.0.0 1.37389E-06
8286 23 K/R 34 None 0.2805 None gnomAD-4.0.0 6.86896E-07
8287 24 V/A 35 rs2077779717 0.1052 None gnomAD-4.0.0 1.60527E-06
8288 25 D/G 38 None 0.3198 None gnomAD-4.0.0 1.20033E-06
8288 25 D/N 38 rs372538009 0.3198 None gnomAD-3.1.2 6.57E-06
8288 25 D/N 38 rs372538009 0.3198 None gnomAD-4.0.0 2.57995E-06
8290 27 T/N 41 None 0.8457 None gnomAD-4.0.0 1.6026E-06
8291 28 P/T 42 None 0.4845 None gnomAD-4.0.0 1.60168E-06
8292 29 E/Q 43 rs778030351 0.9821 None gnomAD-2.1.1 8.13E-06
8292 29 E/Q 43 rs778030351 0.9821 None gnomAD-4.0.0 4.80143E-06
8294 31 R/G 45 rs72648982 0.5314 None gnomAD-2.1.1 2.17258E-02
8294 31 R/G 45 rs72648982 0.5314 None gnomAD-3.1.2 2.06025E-02
8294 31 R/G 45 rs72648982 0.5314 None 1000 genomes 1.21805E-02
8294 31 R/G 45 rs72648982 0.5314 None gnomAD-4.0.0 2.73513E-02
8295 32 I/N 46 rs752786293 0.2508 None gnomAD-2.1.1 8.09E-06
8295 32 I/N 46 rs752786293 0.2508 None gnomAD-4.0.0 6.38857E-06
8296 33 S/P 47 None 0.2035 None gnomAD-4.0.0 6.85202E-07
8296 33 S/T 47 rs767731986 0.2035 None gnomAD-2.1.1 1.21E-05
8296 33 S/T 47 rs767731986 0.2035 None gnomAD-3.1.2 6.57E-06
8296 33 S/T 47 rs767731986 0.2035 None gnomAD-4.0.0 2.48203E-06
8297 34 W/C 48 rs727504205 0.1316 None gnomAD-4.0.0 2.05508E-06
8299 36 K/E 50 rs2077774413 0.1449 None gnomAD-3.1.2 6.57E-06
8299 36 K/E 50 rs2077774413 0.1449 None gnomAD-4.0.0 6.57255E-06
8299 36 K/R 50 None 0.1449 None gnomAD-4.0.0 1.36967E-06
8300 37 E/D 51 rs1438429191 0.6285 None gnomAD-2.1.1 4.03E-06
8300 37 E/D 51 rs1438429191 0.6285 None gnomAD-4.0.0 6.8472E-07
8300 37 E/K 51 rs1300968279 0.6285 None gnomAD-3.1.2 6.58E-06
8300 37 E/K 51 rs1300968279 0.6285 None gnomAD-4.0.0 6.57583E-06
8300 37 E/Q 51 rs1300968279 0.6285 None gnomAD-2.1.1 4.03E-06
8300 37 E/Q 51 rs1300968279 0.6285 None gnomAD-3.1.2 6.58E-06
8300 37 E/Q 51 rs1300968279 0.6285 None gnomAD-4.0.0 5.13343E-06
8301 38 H/L 52 rs763397399 1.0318 None gnomAD-2.1.1 4.03E-06
8301 38 H/L 52 rs763397399 1.0318 None gnomAD-4.0.0 1.59372E-06
8301 38 H/N 52 rs375389220 1.0318 None gnomAD-3.1.2 6.57E-06
8301 38 H/N 52 rs375389220 1.0318 None 1000 genomes 1.99681E-04
8301 38 H/N 52 rs375389220 1.0318 None gnomAD-4.0.0 6.56901E-06
8301 38 H/Y 52 rs375389220 1.0318 None gnomAD-2.1.1 4.03E-06
8301 38 H/Y 52 rs375389220 1.0318 None gnomAD-4.0.0 2.05425E-06
8302 39 T/A 55 None 0.6123 None gnomAD-4.0.0 6.84604E-07
8302 39 T/K 55 rs549604128 0.6123 None gnomAD-2.1.1 8.94E-05
8302 39 T/K 55 rs549604128 0.6123 None gnomAD-3.1.2 5.26E-05
8302 39 T/K 55 rs549604128 0.6123 None 1000 genomes 3.99361E-04
8302 39 T/K 55 rs549604128 0.6123 None gnomAD-4.0.0 2.23197E-05
8302 39 T/S 55 None 0.6123 None gnomAD-4.0.0 6.84604E-07
8305 42 R/Q 59 rs759985618 0.8811 None gnomAD-2.1.1 5.23E-05
8305 42 R/Q 59 rs759985618 0.8811 None gnomAD-3.1.2 6.58E-06
8305 42 R/Q 59 rs759985618 0.8811 None gnomAD-4.0.0 3.34745E-05
8306 43 S/L 70 rs776712129 0.6984 None gnomAD-2.1.1 4.02E-06
8306 43 S/L 70 rs776712129 0.6984 None gnomAD-3.1.2 6.57E-06
8306 43 S/L 70 rs776712129 0.6984 None gnomAD-4.0.0 1.36365E-05
8307 44 A/G 73 rs2077769834 0.2866 None gnomAD-4.0.0 1.20032E-06
8308 45 P/S 102 rs373770383 0.9237 None gnomAD-2.1.1 4.64E-05
8308 45 P/S 102 rs373770383 0.9237 None gnomAD-3.1.2 1.38053E-04
8308 45 P/S 102 rs373770383 0.9237 None gnomAD-4.0.0 2.23131E-05
8309 46 A/E 115 rs186598275 0.2749 None gnomAD-2.1.1 4.02E-06
8309 46 A/E 115 rs186598275 0.2749 None gnomAD-3.1.2 6.57E-06
8309 46 A/E 115 rs186598275 0.2749 None gnomAD-4.0.0 6.5678E-06
8309 46 A/V 115 rs186598275 0.2749 None gnomAD-2.1.1 4.02E-06
8309 46 A/V 115 rs186598275 0.2749 None gnomAD-3.1.2 6.57E-06
8309 46 A/V 115 rs186598275 0.2749 None gnomAD-4.0.0 6.5678E-06
8310 47 Y/C 121 rs879064808 0.3475 None gnomAD-2.1.1 4.02E-06
8310 47 Y/C 121 rs879064808 0.3475 None gnomAD-4.0.0 3.42137E-06
8310 47 Y/H 121 None 0.3475 None gnomAD-4.0.0 6.84287E-07
8310 47 Y/N 121 rs397517511 0.3475 None gnomAD-2.1.1 1.21E-05
8310 47 Y/N 121 rs397517511 0.3475 None gnomAD-3.1.2 1.31E-05
8310 47 Y/N 121 rs397517511 0.3475 None gnomAD-4.0.0 4.33831E-06
8311 48 K/N 122 rs749075617 0.5343 None gnomAD-2.1.1 4.02E-06
8311 48 K/N 122 rs749075617 0.5343 None gnomAD-4.0.0 1.59155E-06
8312 49 M/I 123 None 0.2507 None gnomAD-4.0.0 1.59157E-06
8312 49 M/T 123 rs756314449 0.2507 None gnomAD-2.1.1 4.02E-06
8312 49 M/T 123 rs756314449 0.2507 None gnomAD-3.1.2 6.57E-06
8312 49 M/T 123 rs756314449 0.2507 None gnomAD-4.0.0 5.12522E-06
8312 49 M/V 123 rs777456359 0.2507 None gnomAD-2.1.1 4.02E-06
8312 49 M/V 123 rs777456359 0.2507 None gnomAD-4.0.0 1.59155E-06
8314 51 F/L 127 rs570367600 0.3470 None gnomAD-2.1.1 1.61E-05
8314 51 F/L 127 rs570367600 0.3470 None gnomAD-3.1.2 6.57E-06
8314 51 F/L 127 rs570367600 0.3470 None 1000 genomes 1.99681E-04
8314 51 F/L 127 rs570367600 0.3470 None gnomAD-4.0.0 1.11405E-05
8317 54 N/I 134 rs1278554973 0.3377 None gnomAD-2.1.1 4.02E-06
8317 54 N/I 134 rs1278554973 0.3377 None gnomAD-4.0.0 4.10542E-06
8317 54 N/K 134 rs370154022 0.3377 None gnomAD-2.1.1 1.61E-05
8317 54 N/K 134 rs370154022 0.3377 None gnomAD-3.1.2 7.89E-05
8317 54 N/K 134 rs370154022 0.3377 None gnomAD-4.0.0 1.11553E-05
8318 55 V/I 135 rs200103997 0.2898 None gnomAD-2.1.1 5.74659E-04
8318 55 V/I 135 rs200103997 0.2898 None gnomAD-3.1.2 5.45572E-04
8318 55 V/I 135 rs200103997 0.2898 None 1000 genomes 1.99681E-04
8318 55 V/I 135 rs200103997 0.2898 None gnomAD-4.0.0 7.49198E-04
8319 56 A/P 136 None 0.0945 None gnomAD-4.0.0 4.80129E-06
8319 56 A/T 136 rs2077763797 0.0945 None gnomAD-3.1.2 6.57E-06
8319 56 A/T 136 rs2077763797 0.0945 None gnomAD-4.0.0 6.57263E-06
8319 56 A/V 136 None 0.0945 None gnomAD-4.0.0 2.40064E-06
8320 57 S/C 137 rs1374151646 0.2102 None gnomAD-3.1.2 1.31E-05
8320 57 S/C 137 rs1374151646 0.2102 None gnomAD-4.0.0 1.31377E-05
8320 57 S/F 137 rs1374151646 0.2102 None gnomAD-2.1.1 4.02E-06
8320 57 S/F 137 rs1374151646 0.2102 None gnomAD-4.0.0 4.77415E-06
8322 59 V/A 139 None 0.2406 None gnomAD-4.0.0 4.77412E-06
8322 59 V/I 139 rs201571580 0.2406 None gnomAD-2.1.1 4.02E-06
8322 59 V/I 139 rs201571580 0.2406 None gnomAD-4.0.0 6.84232E-07
8322 59 V/L 139 rs201571580 0.2406 None gnomAD-2.1.1 5.88962E-04
8322 59 V/L 139 rs201571580 0.2406 None gnomAD-3.1.2 4.86349E-04
8322 59 V/L 139 rs201571580 0.2406 None gnomAD-4.0.0 6.38259E-04
8324 61 N/K 141 rs879030954 0.4622 None gnomAD-4.0.0 4.10537E-06
8325 62 K/E 143 rs72648984 0.6736 None gnomAD-2.1.1 5.58292E-03
8325 62 K/E 143 rs72648984 0.6736 None gnomAD-3.1.2 4.66442E-03
8325 62 K/E 143 rs72648984 0.6736 None 1000 genomes 1.59744E-03
8325 62 K/E 143 rs72648984 0.6736 None gnomAD-4.0.0 5.69265E-03
8325 62 K/N 143 rs373995644 0.6736 None gnomAD-2.1.1 4.02E-06
8327 64 D/V 145 None 0.3898 None gnomAD-4.0.0 1.5914E-06
8328 65 H/N 146 rs767212475 0.7883 None gnomAD-2.1.1 4.02E-06
8329 66 S/G 148 None 0.4819 None gnomAD-4.0.0 2.40064E-06
8329 66 S/N 148 None 0.4819 None gnomAD-4.0.0 4.78965E-06
8330 67 D/H 149 None 0.1519 None gnomAD-4.0.0 1.20032E-06
8331 68 V/E 151 rs773888026 0.4197 None gnomAD-2.1.1 4.02E-06
8331 68 V/E 151 rs773888026 0.4197 None gnomAD-4.0.0 1.20032E-06
8332 69 G/E 152 rs2077756630 0.2132 None gnomAD-3.1.2 6.57E-06
8332 69 G/E 152 rs2077756630 0.2132 None gnomAD-4.0.0 6.57212E-06
8333 70 E/D 153 rs1438182051 0.4420 None gnomAD-2.1.1 3.18E-05
8333 70 E/D 153 rs1438182051 0.4420 None gnomAD-3.1.2 6.57E-06
8333 70 E/D 153 rs1438182051 0.4420 None gnomAD-4.0.0 2.56224E-06
8333 70 E/G 153 rs770811407 0.4420 None gnomAD-2.1.1 4.02E-06
8333 70 E/G 153 rs770811407 0.4420 None gnomAD-4.0.0 7.95689E-06
8335 72 S/A 155 rs773006091 0.1918 None gnomAD-2.1.1 4.02E-06
8335 72 S/A 155 rs773006091 0.1918 None gnomAD-4.0.0 6.84237E-07
8335 72 S/T 155 None 0.1918 None gnomAD-4.0.0 6.84237E-07
8336 73 C/G 156 None 0.0887 None gnomAD-4.0.0 1.20032E-06
8336 73 C/S 156 None 0.0887 None gnomAD-4.0.0 1.20032E-06
8339 76 D/E 159 rs1283273345 0.2692 None gnomAD-2.1.1 4.02E-06
8339 76 D/E 159 rs1283273345 0.2692 None gnomAD-4.0.0 4.77458E-06
8340 77 N/S 161 None 0.1572 None gnomAD-4.0.0 2.40064E-06
8341 78 S/R 162 rs1221926854 0.6431 None gnomAD-2.1.1 4.02E-06
8341 78 S/R 162 rs1221926854 0.6431 None gnomAD-4.0.0 6.84318E-07
8343 80 G/A 164 rs1288642142 0.2945 None gnomAD-2.1.1 4.02E-06
8343 80 G/A 164 rs1288642142 0.2945 None gnomAD-4.0.0 1.59204E-06
8344 81 A/E 165 rs748045267 0.4310 None gnomAD-2.1.1 4.03E-06
8344 81 A/E 165 rs748045267 0.4310 None gnomAD-4.0.0 1.59253E-06
8344 81 A/T 165 rs2077751372 0.4310 None gnomAD-4.0.0 1.36876E-06
8345 82 V/A 166 None 0.2616 None gnomAD-4.0.0 6.37397E-06
8346 83 A/T 168 rs755302381 0.3560 None gnomAD-2.1.1 2.01E-05
8346 83 A/T 168 rs755302381 0.3560 None gnomAD-3.1.2 1.31E-05
8346 83 A/T 168 rs755302381 0.3560 None gnomAD-4.0.0 8.06179E-06
8346 83 A/V 168 rs747055472 0.3560 None gnomAD-2.1.1 4.03E-06
8346 83 A/V 168 rs747055472 0.3560 None gnomAD-4.0.0 1.5941E-06
8347 84 S/P 169 rs1345180729 0.1546 None gnomAD-2.1.1 4.03E-06
8347 84 S/P 169 rs1345180729 0.1546 None gnomAD-4.0.0 1.59401E-06
8349 86 A/G 172 rs397517513 0.1200 None gnomAD-2.1.1 1.79E-05
8349 86 A/G 172 rs397517513 0.1200 None gnomAD-3.1.2 1.97E-05
8349 86 A/G 172 rs397517513 0.1200 None gnomAD-4.0.0 3.597E-05
8349 86 A/P 172 rs1459194268 0.1200 None gnomAD-2.1.1 4.03E-06
8349 86 A/P 172 rs1459194268 0.1200 None gnomAD-4.0.0 1.59459E-06
8349 86 A/V 172 rs397517513 0.1200 None gnomAD-3.1.2 1.97E-05
8349 86 A/V 172 rs397517513 0.1200 None gnomAD-4.0.0 1.9714E-05
8350 87 V/A 173 rs915984764 0.3147 None gnomAD-4.0.0 2.0553E-06
8350 87 V/M 173 None 0.3147 None gnomAD-3.1.2 6.57E-06
8350 87 V/M 173 None 0.3147 None gnomAD-4.0.0 6.5722E-06
8352 89 V/L 175 rs750897859 0.4282 None gnomAD-2.1.1 4.04E-06
8352 89 V/L 175 rs750897859 0.4282 None gnomAD-4.0.0 9.58653E-06
8353 90 I/N 177 None 0.3460 None gnomAD-4.0.0 1.59872E-06
8353 90 I/V 177 None 0.3460 None gnomAD-4.0.0 1.37112E-06