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

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
33496 1 P/T 1 rs1691443829 0.5819 None gnomAD-4.0.0 1.59184E-06
33497 2 H/Q 2 rs746874226 0.5230 None gnomAD-2.1.1 4.03E-06
33497 2 H/Q 2 rs746874226 0.5230 None gnomAD-4.0.0 6.84331E-07
33497 2 H/Y 2 rs768361337 0.5230 None gnomAD-2.1.1 1.21E-05
33497 2 H/Y 2 rs768361337 0.5230 None gnomAD-4.0.0 1.27351E-05
33499 4 K/N 4 rs1242533868 0.4724 None gnomAD-2.1.1 1.21E-05
33499 4 K/N 4 rs1242533868 0.4724 None gnomAD-4.0.0 3.18389E-06
33501 6 E/D 7 None 0.8956 None gnomAD-4.0.0 9.55235E-06
33501 6 E/K 7 None 0.8956 None gnomAD-4.0.0 1.59218E-06
33502 7 L/Q 8 rs1464765995 0.2385 None gnomAD-4.0.0 1.59217E-06
33503 8 R/I 9 rs1333857764 0.8566 None gnomAD-4.0.0 1.36878E-06
33507 12 V/I 16 None 0.1613 None gnomAD-4.0.0 3.18523E-06
33508 13 R/K 18 rs758673294 0.7500 None gnomAD-2.1.1 8.08E-06
33508 13 R/S 18 None 0.7500 None gnomAD-4.0.0 1.20032E-06
33508 13 R/T 18 rs758673294 0.7500 None gnomAD-2.1.1 8.08E-06
33508 13 R/T 18 rs758673294 0.7500 None gnomAD-3.1.2 1.31E-05
33508 13 R/T 18 rs758673294 0.7500 None gnomAD-4.0.0 5.12777E-06
33509 14 Y/H 23 rs1404850899 0.4202 None gnomAD-2.1.1 4.04E-06
33509 14 Y/H 23 rs1404850899 0.4202 None gnomAD-4.0.0 1.59254E-06
33510 15 Q/H 24 rs1017116243 0.4928 None gnomAD-4.0.0 6.84478E-06
33510 15 Q/R 24 None 0.4928 None gnomAD-4.0.0 1.59263E-06
33511 16 S/N 25 None 0.2433 None gnomAD-4.0.0 2.40065E-06
33511 16 S/R 25 None 0.2433 None gnomAD-4.0.0 3.60098E-06
33512 17 N/Y 26 rs778965506 0.5436 None gnomAD-2.1.1 2.51E-05
33512 17 N/Y 26 rs778965506 0.5436 None gnomAD-3.1.2 2.63E-05
33512 17 N/Y 26 rs778965506 0.5436 None gnomAD-4.0.0 5.45485E-05
33514 19 T/A 29 None 0.3363 None gnomAD-4.0.0 1.59256E-06
33514 19 T/I 29 None 0.3363 None gnomAD-4.0.0 2.05337E-06
33517 22 C/G 33 None 0.1058 None gnomAD-4.0.0 6.84423E-07
33517 22 C/S 33 None 0.1058 None gnomAD-4.0.0 6.84423E-07
33518 23 K/R 34 rs1691428129 0.1006 None gnomAD-3.1.2 6.57E-06
33518 23 K/R 34 rs1691428129 0.1006 None gnomAD-4.0.0 5.12605E-06
33519 24 V/L 35 None 0.1342 None gnomAD-4.0.0 1.36873E-06
33519 24 V/M 35 None 0.1342 None gnomAD-4.0.0 6.84367E-07
33520 25 T/A 38 rs879185434 0.1850 None gnomAD-3.1.2 1.97E-05
33520 25 T/A 38 rs879185434 0.1850 None gnomAD-4.0.0 1.97106E-05
33520 25 T/N 38 rs1691426177 0.1850 None gnomAD-3.1.2 6.57E-06
33520 25 T/N 38 rs1691426177 0.1850 None gnomAD-4.0.0 6.57212E-06
33520 25 T/S 38 None 0.1850 None gnomAD-4.0.0 1.59201E-06
33521 26 G/D 40 rs370516977 0.1686 None gnomAD-2.1.1 1.07E-05
33521 26 G/D 40 rs370516977 0.1686 None gnomAD-3.1.2 6.57E-06
33521 26 G/D 40 rs370516977 0.1686 None gnomAD-4.0.0 4.33872E-06
33521 26 G/R 40 rs1159933027 0.1686 None gnomAD-2.1.1 4.04E-06
33521 26 G/R 40 rs1159933027 0.1686 None gnomAD-4.0.0 6.84357E-07
33521 26 G/S 40 rs1159933027 0.1686 None gnomAD-2.1.1 7.16E-06
33521 26 G/S 40 rs1159933027 0.1686 None gnomAD-3.1.2 6.57E-06
33521 26 G/S 40 rs1159933027 0.1686 None gnomAD-4.0.0 7.43783E-06
33521 26 G/V 40 None 0.1686 None gnomAD-4.0.0 6.84351E-07
33522 27 H/D 41 None 0.8421 None gnomAD-4.0.0 1.59207E-06
33523 28 P/Q 42 rs794729558 0.4982 None gnomAD-4.0.0 3.18402E-06
33525 30 P/S 44 None 0.2070 None gnomAD-3.1.2 6.57E-06
33525 30 P/S 44 None 0.2070 None gnomAD-4.0.0 2.56307E-06
33526 31 I/M 45 None 0.7577 None gnomAD-4.0.0 1.36866E-06
33526 31 I/T 45 None 0.7577 None gnomAD-4.0.0 1.59176E-06
33526 31 I/V 45 None 0.7577 None gnomAD-4.0.0 1.20032E-06
33527 32 V/I 46 rs2278196 0.2309 None gnomAD-2.1.1 3.23055E-02
33527 32 V/I 46 rs2278196 0.2309 None gnomAD-3.1.2 3.7948E-02
33527 32 V/I 46 rs2278196 0.2309 None 1000 genomes 6.54952E-02
33527 32 V/I 46 rs2278196 0.2309 None gnomAD-4.0.0 2.53438E-02
33529 34 W/R 48 rs998397847 0.1222 None gnomAD-3.1.2 6.57E-06
33529 34 W/R 48 rs998397847 0.1222 None gnomAD-4.0.0 3.71858E-06
33529 34 W/S 48 rs1222059449 0.1222 None gnomAD-3.1.2 6.57E-06
33529 34 W/S 48 rs1222059449 0.1222 None gnomAD-4.0.0 6.57471E-06
33531 36 R/I 50 rs1443902669 0.1863 None gnomAD-3.1.2 6.57E-06
33531 36 R/I 50 rs1443902669 0.1863 None gnomAD-4.0.0 1.23952E-06
33531 36 R/K 50 rs1443902669 0.1863 None gnomAD-2.1.1 4.03E-06
33531 36 R/K 50 rs1443902669 0.1863 None gnomAD-3.1.2 6.57E-06
33531 36 R/K 50 rs1443902669 0.1863 None gnomAD-4.0.0 2.47904E-06
33531 36 R/T 50 None 0.1863 None gnomAD-4.0.0 6.84286E-07
33534 39 K/T 55 None 0.8199 None gnomAD-4.0.0 2.40064E-06
33536 41 I/S 58 None 0.1287 None gnomAD-4.0.0 1.36854E-06
33536 41 I/T 58 None 0.1287 None gnomAD-4.0.0 6.84268E-07
33537 42 I/F 59 rs1184341890 0.9487 None gnomAD-4.0.0 4.77468E-06
33539 44 D/N 72 rs879142934 0.3622 None gnomAD-2.1.1 4.02E-06
33539 44 D/N 72 rs879142934 0.3622 None gnomAD-3.1.2 6.57E-06
33539 44 D/N 72 rs879142934 0.3622 None gnomAD-4.0.0 2.56256E-06
33539 44 D/V 72 rs762709113 0.3622 None gnomAD-2.1.1 1.21E-05
33539 44 D/V 72 rs762709113 0.3622 None gnomAD-4.0.0 1.43244E-05
33540 45 G/R 73 None 0.2840 None gnomAD-4.0.0 1.59166E-06
33540 45 G/V 73 rs1691396278 0.2840 None gnomAD-4.0.0 1.59171E-06
33541 46 L/S 111 rs1283891499 0.8327 None gnomAD-2.1.1 4.03E-06
33541 46 L/S 111 rs1283891499 0.8327 None gnomAD-4.0.0 1.59168E-06
33543 48 Y/H 121 None 0.2196 None gnomAD-4.0.0 1.5917E-06
33544 49 R/S 122 None 0.4693 None gnomAD-4.0.0 6.84408E-07
33547 52 E/K 126 rs1365402838 0.3382 None gnomAD-4.0.0 5.4767E-06
33548 53 F/C 127 None 0.4555 None gnomAD-4.0.0 1.59467E-06
33548 53 F/L 127 rs773561397 0.4555 None gnomAD-2.1.1 3.58E-05
33548 53 F/L 127 rs773561397 0.4555 None gnomAD-3.1.2 3.29E-05
33548 53 F/L 127 rs773561397 0.4555 None gnomAD-4.0.0 3.65899E-05
33550 55 G/D 131 rs370253076 0.4521 None gnomAD-2.1.1 4.03E-06
33550 55 G/D 131 rs370253076 0.4521 None gnomAD-3.1.2 6.57E-06
33550 55 G/D 131 rs370253076 0.4521 None gnomAD-4.0.0 2.56736E-06
33550 55 G/S 131 rs775985787 0.4521 None gnomAD-2.1.1 1.07E-05
33550 55 G/S 131 rs775985787 0.4521 None gnomAD-3.1.2 6.58E-06
33550 55 G/S 131 rs775985787 0.4521 None gnomAD-4.0.0 1.86106E-06
33552 57 Y/C 135 rs768683486 0.2973 None gnomAD-2.1.1 4.04E-06
33552 57 Y/C 135 rs768683486 0.2973 None gnomAD-4.0.0 2.05619E-06
33553 58 H/Q 136 rs746903660 0.1772 None gnomAD-2.1.1 4.04E-06
33553 58 H/Q 136 rs746903660 0.1772 None gnomAD-4.0.0 6.16959E-06
33553 58 H/Y 136 rs1575305295 0.1772 None gnomAD-4.0.0 1.59814E-06
33554 59 Q/E 137 None 0.1921 None gnomAD-4.0.0 1.59882E-06
33556 61 I/L 139 None 0.2041 None gnomAD-4.0.0 1.68175E-05
33557 62 I/M 140 rs771784438 0.0971 None gnomAD-2.1.1 4.06E-06
33557 62 I/T 140 rs1007331943 0.0971 None gnomAD-2.1.1 4.06E-06
33557 62 I/T 140 rs1007331943 0.0971 None gnomAD-4.0.0 1.99117E-05
33558 63 A/P 141 rs376376588 0.1800 None gnomAD-3.1.2 6.57E-06
33558 63 A/P 141 rs376376588 0.1800 None gnomAD-4.0.0 3.73275E-06
33558 63 A/S 141 rs376376588 0.1800 None gnomAD-2.1.1 4.07E-06
33558 63 A/S 141 rs376376588 0.1800 None gnomAD-4.0.0 6.87177E-07
33563 68 D/G 148 rs1691369935 0.6552 None gnomAD-3.1.2 6.57E-06
33563 68 D/G 148 rs1691369935 0.6552 None gnomAD-4.0.0 6.5722E-06
33563 68 D/N 148 rs746118157 0.6552 None gnomAD-2.1.1 4.14E-06
33563 68 D/N 148 rs746118157 0.6552 None gnomAD-4.0.0 3.25247E-06
33565 70 A/P 151 rs373484505 0.3268 None gnomAD-4.0.0 1.24647E-05
33565 70 A/T 151 rs373484505 0.3268 None gnomAD-3.1.2 6.57E-06
33565 70 A/T 151 rs373484505 0.3268 None gnomAD-4.0.0 1.87944E-06
33565 70 A/V 151 rs1691364591 0.3268 None gnomAD-3.1.2 6.58E-06
33565 70 A/V 151 rs1691364591 0.3268 None gnomAD-4.0.0 1.25329E-06
33566 71 T/A 152 rs878854282 0.1987 None gnomAD-2.1.1 1.26E-05
33566 71 T/A 152 rs878854282 0.1987 None gnomAD-3.1.2 1.97E-05
33566 71 T/A 152 rs878854282 0.1987 None gnomAD-4.0.0 1.94301E-05
33566 71 T/I 152 rs779057126 0.1987 None gnomAD-2.1.1 4.62E-05
33566 71 T/I 152 rs779057126 0.1987 None gnomAD-4.0.0 2.28703E-05
33568 73 Y/H 154 None 0.1419 None gnomAD-4.0.0 1.65241E-06
33569 74 Q/H 155 rs1289268364 0.3760 None gnomAD-2.1.1 8.6E-06
33569 74 Q/H 155 rs1289268364 0.3760 None gnomAD-4.0.0 3.31873E-06
33570 75 V/F 156 rs1208247404 0.1066 None gnomAD-4.0.0 1.66186E-06
33572 77 A/T 158 rs1357094378 0.1302 None gnomAD-2.1.1 4.4E-06
33572 77 A/T 158 rs1357094378 0.1302 None gnomAD-4.0.0 1.67616E-06
33572 77 A/V 158 rs1691357196 0.1302 None gnomAD-3.1.2 6.57E-06
33572 77 A/V 158 rs1691357196 0.1302 None gnomAD-4.0.0 6.57281E-06
33573 78 T/I 159 rs2154137156 0.3927 None gnomAD-3.1.2 6.58E-06
33573 78 T/I 159 rs2154137156 0.3927 None gnomAD-4.0.0 1.90449E-06
33574 79 N/S 161 rs1691356141 0.2408 None gnomAD-4.0.0 3.40251E-06
33577 82 G/A 164 None 0.4491 None gnomAD-4.0.0 4.27469E-06
33577 82 G/E 164 rs1266341288 0.4491 None gnomAD-4.0.0 7.12449E-07
33577 82 G/V 164 rs1266341288 0.4491 None gnomAD-2.1.1 4.84E-06
33577 82 G/V 164 rs1266341288 0.4491 None gnomAD-4.0.0 2.84979E-06
33578 83 S/P 165 rs749424660 0.4991 None gnomAD-2.1.1 9.69E-06
33578 83 S/P 165 rs749424660 0.4991 None gnomAD-4.0.0 5.25819E-06
33579 84 V/M 166 rs1344390830 0.3369 None gnomAD-2.1.1 3.18E-05
33581 86 G/A 169 None 0.2695 None gnomAD-4.0.0 4.29775E-06
33582 87 T/S 171 rs1289282264 0.5731 None gnomAD-2.1.1 3.18E-05
33582 87 T/S 171 rs1289282264 0.5731 None gnomAD-3.1.2 6.57E-06
33582 87 T/S 171 rs1289282264 0.5731 None gnomAD-4.0.0 6.57281E-06
33583 88 A/D 172 None 0.1436 None gnomAD-4.0.0 1.44632E-06
33584 89 S/A 173 rs1280611526 0.3163 None gnomAD-3.1.2 6.57E-06
33584 89 S/A 173 rs1280611526 0.3163 None gnomAD-4.0.0 6.57134E-06
33584 89 S/P 173 rs1280611526 0.3163 None gnomAD-2.1.1 5.38E-06
33584 89 S/P 173 rs1280611526 0.3163 None gnomAD-4.0.0 1.82323E-06
33585 90 L/W 174 rs1411829466 0.1545 None gnomAD-2.1.1 3.19E-05
33586 91 E/V 175 None 0.5626 None gnomAD-4.0.0 1.20045E-06
33587 92 V/A 178 None 0.2464 None gnomAD-4.0.0 4.80155E-06
33587 92 V/M 178 rs1401200720 0.2464 None gnomAD-2.1.1 5.49E-06
33587 92 V/M 178 rs1401200720 0.2464 None gnomAD-4.0.0 1.8355E-06