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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
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

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 0.7520 None gnomAD-2.1.1 8.08E-06
33508 13 R/S 18 None 0.7520 None gnomAD-4.0.0 1.20032E-06
33508 13 R/T 18 rs758673294 0.7520 None gnomAD-2.1.1 8.08E-06
33508 13 R/T 18 rs758673294 0.7520 None gnomAD-3.1.2 1.31E-05
33508 13 R/T 18 rs758673294 0.7520 None gnomAD-4.0.0 5.12777E-06
33509 14 Y/H 23 rs1404850899 0.5060 None gnomAD-2.1.1 4.04E-06
33509 14 Y/H 23 rs1404850899 0.5060 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 0.2977 None gnomAD-4.0.0 4.80155E-06
33587 92 V/M 178 rs1401200720 0.2977 None gnomAD-2.1.1 5.49E-06
33587 92 V/M 178 rs1401200720 0.2977 None gnomAD-4.0.0 1.8355E-06