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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19183 1 V/A 1 None 0.4519 None gnomAD-4.0.0 6.94541E-07
19183 1 V/I 1 None 0.4519 None gnomAD-4.0.0 1.64899E-06
19185 3 G/A 3 rs879121197 0.2140 None gnomAD-4.0.0 3.45841E-06
19185 3 G/R 3 rs750828138 0.2140 None gnomAD-2.1.1 4.67E-06
19186 4 P/S 4 None 0.5376 None gnomAD-4.0.0 1.38175E-06
19187 5 V/A 5 rs1290770653 0.1291 None gnomAD-2.1.1 4.35E-06
19187 5 V/A 5 rs1290770653 0.1291 None gnomAD-4.0.0 4.8247E-06
19187 5 V/I 5 rs764203267 0.1291 None gnomAD-2.1.1 3.08E-05
19187 5 V/I 5 rs764203267 0.1291 None gnomAD-3.1.2 7.24E-05
19187 5 V/I 5 rs764203267 0.1291 None gnomAD-4.0.0 1.99748E-05
19188 6 G/R 6 None 0.1528 None gnomAD-4.0.0 6.89016E-07
19188 6 G/V 6 None 0.1528 None gnomAD-4.0.0 1.61777E-06
19189 7 T/K 7 None 0.7031 None gnomAD-4.0.0 1.61477E-06
19191 9 F/L 10 None 0.1365 None gnomAD-4.0.0 6.87617E-07
19192 10 L/P 11 rs1338687639 0.3951 None gnomAD-3.1.2 6.57E-06
19192 10 L/P 11 rs1338687639 0.3951 None gnomAD-4.0.0 1.86659E-06
19192 10 L/V 11 None 0.3951 None gnomAD-4.0.0 4.82498E-06
19193 11 A/T 12 rs2051397656 0.2103 None gnomAD-4.0.0 1.3744E-06
19193 11 A/V 12 None 0.2103 None gnomAD-4.0.0 1.20033E-06
19194 12 H/R 13 None 0.5312 None gnomAD-4.0.0 6.86908E-07
19195 13 N/H 14 rs757544346 0.3106 None gnomAD-2.1.1 4.18E-06
19195 13 N/H 14 rs757544346 0.3106 None gnomAD-3.1.2 6.58E-06
19195 13 N/H 14 rs757544346 0.3106 None gnomAD-4.0.0 2.58081E-06
19195 13 N/S 14 rs754292868 0.3106 None gnomAD-2.1.1 8.35E-06
19195 13 N/S 14 rs754292868 0.3106 None gnomAD-4.0.0 4.1206E-06
19196 14 L/V 15 rs397517630 0.2484 None gnomAD-2.1.1 1.69654E-04
19196 14 L/V 15 rs397517630 0.2484 None gnomAD-3.1.2 7.9E-05
19196 14 L/V 15 rs397517630 0.2484 None gnomAD-4.0.0 1.39276E-04
19197 15 T/I 16 None 0.2792 None gnomAD-4.0.0 6.86581E-07
19198 16 N/K 17 rs367606284 0.3272 None gnomAD-2.1.1 7.34E-06
19198 16 N/K 17 rs367606284 0.3272 None gnomAD-3.1.2 3.29E-05
19198 16 N/K 17 rs367606284 0.3272 None gnomAD-4.0.0 4.3507E-06
19198 16 N/S 17 rs199787097 0.3272 None gnomAD-2.1.1 3.74E-05
19198 16 N/S 17 rs199787097 0.3272 None gnomAD-3.1.2 4.61E-05
19198 16 N/S 17 rs199787097 0.3272 None gnomAD-4.0.0 1.11276E-04
19199 17 E/K 18 None 0.5620 None gnomAD-4.0.0 1.60333E-06
19199 17 E/V 18 rs2051391133 0.5620 None gnomAD-3.1.2 6.58E-06
19199 17 E/V 18 rs2051391133 0.5620 None gnomAD-4.0.0 6.5767E-06
19200 18 S/F 19 None 0.1107 None gnomAD-4.0.0 1.60272E-06
19201 19 C/G 20 rs1408812276 0.0719 None gnomAD-2.1.1 2.9E-05
19201 19 C/G 20 rs1408812276 0.0719 None gnomAD-4.0.0 5.49103E-06
19201 19 C/R 20 None 0.0719 None gnomAD-4.0.0 2.74551E-06
19203 21 L/V 22 rs1170083550 0.0860 None gnomAD-2.1.1 4.13E-06
19203 21 L/V 22 rs1170083550 0.0860 None gnomAD-4.0.0 1.60188E-06
19204 22 T/P 23 None 0.2661 None gnomAD-4.0.0 6.8612E-07
19205 23 W/R 24 rs2154188330 0.0818 None gnomAD-4.0.0 3.43056E-06
19205 23 W/S 24 rs772966626 0.0818 None gnomAD-4.0.0 6.86173E-07
19207 25 S/C 26 rs2051384370 0.3195 None gnomAD-4.0.0 1.60229E-06
19207 25 S/P 26 None 0.3195 None gnomAD-4.0.0 1.60208E-06
19209 27 E/D 28 rs769829057 1.1070 None gnomAD-2.1.1 8.29E-06
19209 27 E/D 28 rs769829057 1.1070 None gnomAD-4.0.0 4.80402E-06
19211 29 D/V 30 None 0.3025 None gnomAD-4.0.0 1.20033E-06
19211 29 D/Y 30 None 0.3025 None gnomAD-4.0.0 6.86457E-07
19212 30 G/E 31 rs761511119 0.3102 None gnomAD-2.1.1 8.33E-06
19212 30 G/E 31 rs761511119 0.3102 None gnomAD-4.0.0 4.81201E-06
19213 31 G/D 32 None 0.5895 None gnomAD-4.0.0 6.86608E-07
19215 33 P/S 34 rs776531074 0.7020 None gnomAD-2.1.1 4.17E-06
19215 33 P/S 34 rs776531074 0.7020 None gnomAD-4.0.0 1.60373E-06
19216 34 I/V 35 rs374058726 0.1770 None gnomAD-2.1.1 3.64789E-04
19216 34 I/V 35 rs374058726 0.1770 None gnomAD-3.1.2 2.56501E-04
19216 34 I/V 35 rs374058726 0.1770 None gnomAD-4.0.0 3.20132E-04
19217 35 T/A 36 None 0.3250 None gnomAD-4.0.0 1.37294E-06
19217 35 T/I 36 None 0.3250 None gnomAD-4.0.0 1.60349E-06
19218 36 N/I 37 rs1270810724 0.2263 None gnomAD-4.0.0 1.60353E-06
19218 36 N/S 37 rs1270810724 0.2263 None gnomAD-2.1.1 4.16E-06
19218 36 N/S 37 rs1270810724 0.2263 None gnomAD-4.0.0 1.60353E-06
19219 37 Y/F 38 rs201541213 0.0963 None gnomAD-2.1.1 1.50872E-04
19219 37 Y/F 38 rs201541213 0.0963 None gnomAD-3.1.2 1.5128E-04
19219 37 Y/F 38 rs201541213 0.0963 None gnomAD-4.0.0 3.51815E-04
19219 37 Y/H 38 rs1220456349 0.0963 None gnomAD-2.1.1 1.1E-05
19219 37 Y/H 38 rs1220456349 0.0963 None gnomAD-3.1.2 6.58E-06
19219 37 Y/H 38 rs1220456349 0.0963 None gnomAD-4.0.0 4.97221E-06
19221 39 I/L 40 None 0.0934 None gnomAD-4.0.0 3.43234E-06
19221 39 I/T 40 rs907612053 0.0934 None gnomAD-3.1.2 6.58E-06
19221 39 I/T 40 rs907612053 0.0934 None gnomAD-4.0.0 1.62419E-05
19221 39 I/V 40 None 0.0934 None gnomAD-4.0.0 6.86467E-07
19222 40 E/A 41 None 0.1015 None gnomAD-4.0.0 6.86457E-07
19222 40 E/G 41 rs572862573 0.1015 None gnomAD-2.1.1 7.07E-05
19222 40 E/G 41 rs572862573 0.1015 None gnomAD-3.1.2 6.58E-06
19222 40 E/G 41 rs572862573 0.1015 None 1000 genomes 1.99681E-04
19222 40 E/G 41 rs572862573 0.1015 None gnomAD-4.0.0 2.85905E-05
19222 40 E/K 41 rs2051376296 0.1015 None gnomAD-4.0.0 6.86556E-07
19222 40 E/V 41 rs572862573 0.1015 None gnomAD-2.1.1 4.16E-06
19222 40 E/V 41 rs572862573 0.1015 None gnomAD-4.0.0 6.86457E-07
19224 42 R/C 43 rs746014932 0.1673 None gnomAD-2.1.1 4.17E-06
19224 42 R/C 43 rs746014932 0.1673 None gnomAD-3.1.2 2.63E-05
19224 42 R/C 43 rs746014932 0.1673 None gnomAD-4.0.0 1.30575E-05
19224 42 R/H 43 rs779279322 0.1673 None gnomAD-2.1.1 2.21E-05
19224 42 R/H 43 rs779279322 0.1673 None gnomAD-3.1.2 3.95E-05
19224 42 R/H 43 rs779279322 0.1673 None gnomAD-4.0.0 2.79795E-05
19224 42 R/L 43 None 0.1673 None gnomAD-4.0.0 6.86645E-07
19225 43 E/K 44 rs2051373830 0.2242 None gnomAD-4.0.0 3.20906E-06
19227 45 D/E 54 rs1440846373 0.6672 None gnomAD-2.1.1 4.16E-06
19227 45 D/E 54 rs1440846373 0.6672 None gnomAD-4.0.0 6.86601E-07
19228 46 R/C 60 rs757820671 0.4940 None gnomAD-2.1.1 4.05E-05
19228 46 R/C 60 rs757820671 0.4940 None gnomAD-3.1.2 4.61E-05
19228 46 R/C 60 rs757820671 0.4940 None gnomAD-4.0.0 1.67895E-05
19228 46 R/H 60 rs114711705 0.4940 None gnomAD-2.1.1 6.82103E-04
19228 46 R/H 60 rs114711705 0.4940 None gnomAD-3.1.2 1.96786E-03
19228 46 R/H 60 rs114711705 0.4940 None 1000 genomes 2.59585E-03
19228 46 R/H 60 rs114711705 0.4940 None gnomAD-4.0.0 3.97341E-04
19229 47 R/K 63 rs778237029 0.9738 None gnomAD-2.1.1 4.16E-06
19229 47 R/K 63 rs778237029 0.9738 None gnomAD-4.0.0 5.49287E-06
19229 47 R/S 63 None 0.9738 None gnomAD-4.0.0 2.40064E-06
19231 49 W/C 65 rs876658071 0.2183 None gnomAD-4.0.0 6.86783E-07
19232 50 T/I 66 rs376457991 0.5072 None gnomAD-2.1.1 8.34E-06
19232 50 T/I 66 rs376457991 0.5072 None gnomAD-3.1.2 6.58E-06
19232 50 T/I 66 rs376457991 0.5072 None gnomAD-4.0.0 4.35269E-06
19232 50 T/N 66 rs376457991 0.5072 None gnomAD-2.1.1 4.17E-06
19232 50 T/N 66 rs376457991 0.5072 None gnomAD-3.1.2 6.58E-06
19232 50 T/N 66 rs376457991 0.5072 None gnomAD-4.0.0 1.24372E-06
19233 51 P/L 67 None 0.3986 None gnomAD-4.0.0 1.60567E-06
19233 51 P/S 67 rs766143106 0.3986 None gnomAD-2.1.1 4.17E-06
19233 51 P/S 67 rs766143106 0.3986 None gnomAD-4.0.0 1.6055E-06
19233 51 P/T 67 rs766143106 0.3986 None gnomAD-4.0.0 1.6055E-06
19236 54 Y/H 70 rs375797796 0.5008 None gnomAD-2.1.1 8.35E-06
19236 54 Y/H 70 rs375797796 0.5008 None gnomAD-3.1.2 3.29E-05
19236 54 Y/H 70 rs375797796 0.5008 None gnomAD-4.0.0 4.35479E-06
19237 55 T/R 75 None 0.6239 None gnomAD-4.0.0 6.87372E-07
19239 57 T/A 83 None 0.5372 None gnomAD-4.0.0 6.87783E-07
19239 57 T/I 83 rs2051363006 0.5372 None gnomAD-3.1.2 6.58E-06
19239 57 T/I 83 rs2051363006 0.5372 None gnomAD-4.0.0 1.24546E-06
19240 58 R/Q 88 rs535940583 0.6813 None gnomAD-2.1.1 4.25E-05
19240 58 R/Q 88 rs535940583 0.6813 None gnomAD-3.1.2 3.95E-05
19240 58 R/Q 88 rs535940583 0.6813 None 1000 genomes 5.99042E-04
19240 58 R/Q 88 rs535940583 0.6813 None gnomAD-4.0.0 2.49257E-05
19242 60 N/K 90 rs1201568754 0.3531 None gnomAD-4.0.0 6.88921E-07
19243 61 A/P 91 rs1313667626 0.1598 None gnomAD-2.1.1 4.29E-06
19243 61 A/P 91 rs1313667626 0.1598 None gnomAD-3.1.2 6.58E-06
19243 61 A/P 91 rs1313667626 0.1598 None gnomAD-4.0.0 4.99061E-06
19244 62 T/P 92 rs796304694 0.4463 None gnomAD-2.1.1 3.19E-05
19244 62 T/P 92 rs796304694 0.4463 None gnomAD-3.1.2 6.58E-06
19244 62 T/P 92 rs796304694 0.4463 None gnomAD-4.0.0 2.49655E-06
19245 63 V/I 93 rs763810038 0.1417 None gnomAD-3.1.2 6.58E-06
19246 64 Q/H 94 None 0.7557 None gnomAD-4.0.0 1.62833E-06
19246 64 Q/R 94 None 0.7557 None gnomAD-4.0.0 1.62689E-06
19247 65 G/A 96 None 0.4738 None gnomAD-4.0.0 6.91505E-07
19247 65 G/D 96 None 0.4738 None gnomAD-4.0.0 6.91505E-07
19247 65 G/R 96 None 0.4738 None gnomAD-4.0.0 1.63002E-06
19247 65 G/V 96 rs1222912274 0.4738 None gnomAD-2.1.1 4.43E-06
19247 65 G/V 96 rs1222912274 0.4738 None gnomAD-4.0.0 6.91505E-07
19249 67 I/T 98 rs2051354883 0.5225 None gnomAD-4.0.0 1.63883E-06
19249 67 I/V 98 None 0.5225 None gnomAD-4.0.0 3.2748E-06
19250 68 Q/P 99 None 0.5394 None gnomAD-4.0.0 6.93904E-06
19251 69 G/E 100 rs2051353866 0.4162 None gnomAD-4.0.0 1.65076E-06
19253 71 A/D 103 rs1310871071 0.2083 None gnomAD-2.1.1 4.8E-06
19253 71 A/T 103 None 0.2083 None gnomAD-4.0.0 3.3199E-06
19253 71 A/V 103 rs1310871071 0.2083 None gnomAD-3.1.2 6.58E-06
19253 71 A/V 103 rs1310871071 0.2083 None gnomAD-4.0.0 6.57964E-06
19254 72 Y/N 104 None 0.1118 None gnomAD-4.0.0 1.66373E-06
19257 75 R/Q 107 rs202076328 0.1120 None gnomAD-2.1.1 5.24454E-04
19257 75 R/Q 107 rs202076328 0.1120 None gnomAD-3.1.2 2.9656E-04
19257 75 R/Q 107 rs202076328 0.1120 None gnomAD-4.0.0 2.32162E-04
19258 76 I/F 108 rs1467911072 0.0446 None gnomAD-2.1.1 1.51E-05
19258 76 I/F 108 rs1467911072 0.0446 None gnomAD-4.0.0 5.03846E-06
19258 76 I/L 108 None 0.0446 None gnomAD-4.0.0 1.67949E-06
19258 76 I/T 108 rs1360164741 0.0446 None gnomAD-2.1.1 5.04E-06
19258 76 I/T 108 rs1360164741 0.0446 None gnomAD-3.1.2 1.97E-05
19258 76 I/T 108 rs1360164741 0.0446 None gnomAD-4.0.0 5.06282E-06
19259 77 A/V 109 rs868535712 0.0656 None gnomAD-3.1.2 1.32E-05
19259 77 A/V 109 rs868535712 0.0656 None gnomAD-4.0.0 2.02777E-05
19261 79 E/A 111 rs1454108057 0.2452 None gnomAD-4.0.0 1.20032E-06
19261 79 E/D 111 None 0.2452 None gnomAD-4.0.0 1.40367E-06
19261 79 E/K 111 rs200311184 0.2452 None gnomAD-2.1.1 5.11E-06
19261 79 E/K 111 rs200311184 0.2452 None gnomAD-4.0.0 1.68943E-06
19263 81 S/I 113 None 0.5474 None gnomAD-4.0.0 6.323E-06
19263 81 S/N 113 rs772342556 0.5474 None gnomAD-2.1.1 3.1E-05
19263 81 S/N 113 rs772342556 0.5474 None gnomAD-3.1.2 1.32E-05
19263 81 S/N 113 rs772342556 0.5474 None gnomAD-4.0.0 8.88764E-06
19264 82 I/M 114 rs2154188219 0.6321 None gnomAD-4.0.0 3.3963E-06
19264 82 I/T 114 rs1242461429 0.6321 None gnomAD-2.1.1 5.21E-06
19264 82 I/T 114 rs1242461429 0.6321 None gnomAD-4.0.0 3.51511E-06
19265 83 G/V 115 rs1361416773 0.1815 None gnomAD-2.1.1 3.19E-05
19265 83 G/V 115 rs1361416773 0.1815 None gnomAD-3.1.2 6.58E-06
19266 84 M/V 117 rs372963343 0.2905 None gnomAD-2.1.1 4.11E-05
19266 84 M/V 117 rs372963343 0.2905 None gnomAD-3.1.2 1.32E-05
19266 84 M/V 117 rs372963343 0.2905 None gnomAD-4.0.0 2.03583E-05
19268 86 P/Q 119 None 0.4264 None gnomAD-4.0.0 1.71411E-06
19269 87 F/L 120 rs1214774748 0.2633 None gnomAD-4.0.0 3.43113E-06
19269 87 F/S 120 None 0.2633 None gnomAD-4.0.0 3.4326E-06
19270 88 V/I 121 None 0.2273 None gnomAD-4.0.0 7.06833E-07
19270 88 V/L 121 rs369440319 0.2273 None gnomAD-2.1.1 1.74287E-04
19270 88 V/L 121 rs369440319 0.2273 None gnomAD-3.1.2 4.48117E-04
19270 88 V/L 121 rs369440319 0.2273 None 1000 genomes 3.99361E-04
19270 88 V/L 121 rs369440319 0.2273 None gnomAD-4.0.0 7.7236E-05
19271 89 E/K 122 rs2051339525 0.3333 None gnomAD-4.0.0 1.72222E-06
19272 90 T/A 123 None 0.1475 None gnomAD-4.0.0 1.20032E-06
19272 90 T/I 123 rs1049715521 0.1475 None gnomAD-4.0.0 5.66484E-06
19273 91 S/L 124 None 0.7751 None gnomAD-4.0.0 1.72985E-06
19273 91 S/T 124 rs778433386 0.7751 None gnomAD-2.1.1 5.66E-06
19273 91 S/T 124 rs778433386 0.7751 None gnomAD-3.1.2 1.98E-05
19273 91 S/T 124 rs778433386 0.7751 None gnomAD-4.0.0 6.84774E-06
19274 92 E/K 125 rs1410177303 0.8373 None gnomAD-4.0.0 1.41807E-06
19275 93 A/E 126 rs866449199 0.2644 None gnomAD-4.0.0 1.73896E-06
19275 93 A/T 126 None 0.2644 None gnomAD-4.0.0 2.83868E-06
19276 94 L/F 127 rs756493505 0.1830 None gnomAD-2.1.1 1.98E-05
19276 94 L/F 127 rs756493505 0.1830 None gnomAD-3.1.2 1.98E-05
19276 94 L/F 127 rs756493505 0.1830 None gnomAD-4.0.0 5.77486E-06
19276 94 L/P 127 rs748582312 0.1830 None gnomAD-2.1.1 5.85E-06
19276 94 L/P 127 rs748582312 0.1830 None gnomAD-3.1.2 6.58E-06
19276 94 L/P 127 rs748582312 0.1830 None gnomAD-4.0.0 1.9236E-06
19277 95 V/I 129 rs1398372843 0.4555 None gnomAD-2.1.1 5.91E-06
19277 95 V/I 129 rs1398372843 0.4555 None gnomAD-4.0.0 7.11096E-07
19277 95 V/L 129 None 0.4555 None gnomAD-4.0.0 7.11096E-07
19278 96 I/V 130 rs56025724 0.0827 None gnomAD-2.1.1 4.75E-05
19278 96 I/V 130 rs56025724 0.0827 None gnomAD-3.1.2 6.58E-06
19278 96 I/V 130 rs56025724 0.0827 None gnomAD-4.0.0 7.70423E-06
19279 97 R/G 131 None 0.7040 None gnomAD-4.0.0 1.75052E-06
19280 98 E/K 132 rs566966765 1.2369 None gnomAD-2.1.1 6.25E-06