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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17677 1 S/C 1 None 0.4290 None gnomAD-4.0.0 1.59294E-06
17678 2 V/F 3 rs1423968417 0.1292 None gnomAD-4.0.0 1.59292E-06
17678 2 V/L 3 None 0.1292 None gnomAD-4.0.0 1.59292E-06
17680 4 G/D 9 rs779241909 0.7918 None gnomAD-3.1.2 6.58E-06
17680 4 G/D 9 rs779241909 0.7918 None gnomAD-4.0.0 2.04601E-05
17680 4 G/S 9 None 0.7918 None gnomAD-4.0.0 1.59284E-06
17681 5 G/R 11 rs2055221235 0.3143 None gnomAD-4.0.0 1.36901E-06
17682 6 I/T 13 None 0.1803 None gnomAD-4.0.0 2.40065E-06
17683 7 Q/K 14 None 0.5137 None gnomAD-4.0.0 3.18579E-06
17684 8 I/V 16 rs1456939827 0.1521 None gnomAD-3.1.2 1.32E-05
17684 8 I/V 16 rs1456939827 0.1521 None gnomAD-4.0.0 8.05967E-06
17685 9 M/I 18 rs200387466 0.4513 None gnomAD-2.1.1 2.04339E-04
17685 9 M/I 18 rs200387466 0.4513 None gnomAD-3.1.2 6.71088E-04
17685 9 M/I 18 rs200387466 0.4513 None 1000 genomes 7.98722E-04
17685 9 M/I 18 rs200387466 0.4513 None gnomAD-4.0.0 1.27707E-04
17685 9 M/K 18 None 0.4513 None gnomAD-4.0.0 3.18548E-06
17685 9 M/T 18 rs1289030052 0.4513 None gnomAD-3.1.2 1.32E-05
17685 9 M/T 18 rs1289030052 0.4513 None gnomAD-4.0.0 6.41157E-06
17685 9 M/V 18 rs2055217957 0.4513 None gnomAD-3.1.2 1.32E-05
17685 9 M/V 18 rs2055217957 0.4513 None gnomAD-4.0.0 6.81979E-06
17686 10 A/S 23 rs1576364760 0.4039 None gnomAD-3.1.2 6.58E-06
17686 10 A/S 23 rs1576364760 0.4039 None gnomAD-4.0.0 3.84634E-06
17687 11 G/E 24 rs780672348 0.3789 None gnomAD-2.1.1 4.04E-06
17687 11 G/E 24 rs780672348 0.3789 None gnomAD-4.0.0 6.84476E-07
17687 11 G/V 24 rs780672348 0.3789 None gnomAD-2.1.1 2.15E-05
17687 11 G/V 24 rs780672348 0.3789 None gnomAD-3.1.2 3.95E-05
17687 11 G/V 24 rs780672348 0.3789 None gnomAD-4.0.0 3.53396E-05
17688 12 K/E 25 rs201675016 0.5052 None gnomAD-4.0.0 9.23365E-04
17689 13 T/A 26 None 0.3789 None gnomAD-4.0.0 6.00164E-06
17690 14 L/P 28 rs370469461 0.1705 None gnomAD-2.1.1 8.08E-06
17690 14 L/P 28 rs370469461 0.1705 None gnomAD-3.1.2 3.29E-05
17690 14 L/P 28 rs370469461 0.1705 None gnomAD-4.0.0 7.69387E-06
17691 15 R/G 29 rs1450047709 0.5107 None gnomAD-2.1.1 4.04E-06
17691 15 R/G 29 rs1450047709 0.5107 None gnomAD-4.0.0 5.47579E-06
17692 16 I/V 30 rs753698005 0.0988 None gnomAD-2.1.1 4.04E-06
17693 17 P/L 31 rs1176166730 0.2362 None gnomAD-2.1.1 4.04E-06
17693 17 P/L 31 rs1176166730 0.2362 None gnomAD-4.0.0 1.59267E-06
17693 17 P/T 31 None 0.2362 None gnomAD-4.0.0 1.20032E-06
17694 18 A/T 33 None 0.1087 None gnomAD-4.0.0 1.20032E-06
17695 19 V/G 34 rs2055207996 0.3496 None gnomAD-3.1.2 6.58E-06
17695 19 V/G 34 rs2055207996 0.3496 None gnomAD-4.0.0 6.5786E-06
17696 20 V/A 35 rs764155048 0.1453 None gnomAD-4.0.0 3.18507E-06
17696 20 V/G 35 None 0.1453 None gnomAD-4.0.0 1.59253E-06
17696 20 V/L 35 None 0.1453 None gnomAD-4.0.0 1.20032E-06
17698 22 G/C 40 None 0.1642 None gnomAD-4.0.0 6.84435E-07
17698 22 G/D 40 None 0.1642 None gnomAD-4.0.0 1.36885E-06
17698 22 G/S 40 None 0.1642 None gnomAD-4.0.0 6.84435E-07
17699 23 R/C 41 rs760963888 0.5409 None gnomAD-2.1.1 2.51E-05
17699 23 R/C 41 rs760963888 0.5409 None gnomAD-3.1.2 1.32E-05
17699 23 R/C 41 rs760963888 0.5409 None gnomAD-4.0.0 1.48798E-05
17699 23 R/H 41 None 0.5409 None gnomAD-2.1.1 1.77036E-03
17699 23 R/H 41 None 0.5409 None gnomAD-3.1.2 1.58636E-03
17699 23 R/H 41 None 0.5409 None 1000 genomes 1.19808E-03
17699 23 R/H 41 None 0.5409 None gnomAD-4.0.0 2.24162E-03
17699 23 R/L 41 rs72646808 0.5409 None gnomAD-2.1.1 4.04E-06
17699 23 R/L 41 rs72646808 0.5409 None gnomAD-4.0.0 1.36885E-06
17699 23 R/P 41 rs72646808 0.5409 None gnomAD-3.1.2 1.32E-05
17699 23 R/P 41 rs72646808 0.5409 None gnomAD-4.0.0 1.85989E-06
17700 24 P/L 42 rs767647740 0.5250 None gnomAD-2.1.1 4.04E-06
17700 24 P/L 42 rs767647740 0.5250 None gnomAD-4.0.0 1.59242E-06
17701 25 V/E 43 rs1484367786 0.8136 None gnomAD-2.1.1 8.07E-06
17701 25 V/E 43 rs1484367786 0.8136 None gnomAD-4.0.0 4.77705E-06
17701 25 V/I 43 rs1481397518 0.8136 None gnomAD-3.1.2 1.32E-05
17701 25 V/I 43 rs1481397518 0.8136 None gnomAD-4.0.0 6.19941E-06
17702 26 P/S 44 rs1238325853 0.1753 None gnomAD-2.1.1 4.04E-06
17702 26 P/S 44 rs1238325853 0.1753 None gnomAD-4.0.0 1.59243E-06
17703 27 T/A 45 None 0.6293 None gnomAD-4.0.0 1.59233E-06
17703 27 T/S 45 None 0.6293 None gnomAD-4.0.0 1.59233E-06
17704 28 K/E 46 None 0.2713 None gnomAD-4.0.0 4.10637E-06
17705 29 V/I 47 None 0.6167 None gnomAD-4.0.0 4.77693E-06
17707 31 T/A 49 None 0.4995 None gnomAD-4.0.0 1.5923E-06
17707 31 T/N 49 rs2055199446 0.4995 None gnomAD-3.1.2 6.59E-06
17707 31 T/N 49 rs2055199446 0.4995 None gnomAD-4.0.0 6.58874E-06
17708 32 K/E 50 rs185913848 0.1894 None gnomAD-2.1.1 3.72269E-04
17708 32 K/E 50 rs185913848 0.1894 None gnomAD-3.1.2 4.27682E-04
17708 32 K/E 50 rs185913848 0.1894 None 1000 genomes 7.98722E-04
17708 32 K/E 50 rs185913848 0.1894 None gnomAD-4.0.0 7.12853E-04
17708 32 K/I 50 rs2303832 0.1894 None gnomAD-2.1.1 2.86276E-02
17708 32 K/I 50 rs2303832 0.1894 None gnomAD-3.1.2 2.13591E-02
17708 32 K/I 50 rs2303832 0.1894 None 1000 genomes 2.95527E-02
17708 32 K/I 50 rs2303832 0.1894 None gnomAD-4.0.0 2.35557E-02
17710 34 E/D 52 rs749551895 0.9742 None gnomAD-2.1.1 3.19E-05
17710 34 E/D 52 rs749551895 0.9742 None gnomAD-3.1.2 6.58E-06
17710 34 E/D 52 rs749551895 0.9742 None gnomAD-4.0.0 6.57964E-06
17711 35 G/R 55 rs773642381 0.4211 None gnomAD-2.1.1 7.16E-06
17711 35 G/R 55 rs773642381 0.4211 None gnomAD-3.1.2 6.58E-06
17711 35 G/R 55 rs773642381 0.4211 None gnomAD-4.0.0 3.09969E-06
17712 36 E/K 56 None 1.0170 None gnomAD-4.0.0 1.59239E-06
17713 37 L/V 58 rs1008171003 0.3114 None gnomAD-3.1.2 6.58E-06
17713 37 L/V 58 rs1008171003 0.3114 None gnomAD-4.0.0 2.56432E-06
17714 38 D/N 59 None 0.3846 None gnomAD-4.0.0 6.84404E-07
17714 38 D/Y 59 rs1051253179 0.3846 None gnomAD-2.1.1 1.21E-05
17714 38 D/Y 59 rs1051253179 0.3846 None gnomAD-4.0.0 1.23193E-05
17715 39 K/E 70 None 0.8732 None gnomAD-4.0.0 1.59232E-06
17715 39 K/N 70 rs2055193492 0.8732 None gnomAD-3.1.2 6.58E-06
17715 39 K/N 70 rs2055193492 0.8732 None gnomAD-4.0.0 6.57843E-06
17716 40 D/N 109 rs1576363473 0.9592 None gnomAD-3.1.2 6.58E-06
17716 40 D/N 109 rs1576363473 0.9592 None gnomAD-4.0.0 6.58033E-06
17717 41 R/C 115 rs369001587 0.2836 None gnomAD-2.1.1 1.61E-05
17717 41 R/C 115 rs369001587 0.2836 None gnomAD-3.1.2 6.58E-06
17717 41 R/C 115 rs369001587 0.2836 None gnomAD-4.0.0 7.43944E-06
17717 41 R/H 115 rs757018821 0.2836 None gnomAD-2.1.1 5.72E-05
17717 41 R/H 115 rs757018821 0.2836 None gnomAD-3.1.2 6.58E-05
17717 41 R/H 115 rs757018821 0.2836 None gnomAD-4.0.0 2.54175E-05
17717 41 R/P 115 rs757018821 0.2836 None gnomAD-2.1.1 7.15E-06
17717 41 R/P 115 rs757018821 0.2836 None gnomAD-3.1.2 6.58E-06
17717 41 R/P 115 rs757018821 0.2836 None gnomAD-4.0.0 1.23988E-06
17718 42 V/F 121 rs757223139 0.2052 None gnomAD-2.1.1 4.03E-06
17718 42 V/F 121 rs757223139 0.2052 None gnomAD-4.0.0 1.59229E-06
17718 42 V/G 121 None 0.2052 None gnomAD-4.0.0 2.05322E-06
17718 42 V/I 121 rs757223139 0.2052 None gnomAD-2.1.1 4.03E-06
17718 42 V/I 121 rs757223139 0.2052 None gnomAD-3.1.2 6.58E-06
17718 42 V/I 121 rs757223139 0.2052 None gnomAD-4.0.0 6.57929E-06
17719 43 V/A 122 rs564121832 0.5476 None gnomAD-2.1.1 1.28815E-04
17719 43 V/A 122 rs564121832 0.5476 None gnomAD-3.1.2 3.29E-05
17719 43 V/A 122 rs564121832 0.5476 None 1000 genomes 1.99681E-04
17719 43 V/A 122 rs564121832 0.5476 None gnomAD-4.0.0 7.43864E-05
17720 44 I/M 123 None 0.3703 None gnomAD-4.0.0 1.59221E-06
17720 44 I/T 123 rs201358641 0.3703 None gnomAD-2.1.1 2.85914E-04
17720 44 I/T 123 rs201358641 0.3703 None gnomAD-3.1.2 2.82988E-04
17720 44 I/T 123 rs201358641 0.3703 None gnomAD-4.0.0 1.84118E-04
17721 45 D/V 125 None 0.6077 None gnomAD-4.0.0 1.20032E-06
17723 47 V/A 130 rs1420844949 0.7413 None gnomAD-3.1.2 6.58E-06
17723 47 V/A 130 rs1420844949 0.7413 None gnomAD-4.0.0 5.57955E-06
17723 47 V/D 130 rs1420844949 0.7413 None gnomAD-2.1.1 4.02E-06
17723 47 V/D 130 rs1420844949 0.7413 None gnomAD-4.0.0 1.3688E-06
17723 47 V/I 130 rs2055183327 0.7413 None gnomAD-4.0.0 4.10644E-06
17723 47 V/L 130 None 0.7413 None gnomAD-4.0.0 6.84406E-07
17724 48 G/E 131 None 0.5019 None gnomAD-4.0.0 1.36881E-06
17724 48 G/V 131 rs1385094780 0.5019 None gnomAD-2.1.1 4.02E-06
17724 48 G/V 131 rs1385094780 0.5019 None gnomAD-4.0.0 6.84406E-07
17725 49 T/I 134 None 0.4643 None gnomAD-4.0.0 1.59231E-06
17727 51 S/C 136 rs369262757 0.1344 None gnomAD-2.1.1 3.57E-05
17727 51 S/C 136 rs369262757 0.1344 None gnomAD-3.1.2 3.29E-05
17727 51 S/C 136 rs369262757 0.1344 None gnomAD-4.0.0 1.61167E-05
17728 52 E/K 137 None 0.2588 None gnomAD-4.0.0 6.84391E-07
17729 53 L/V 138 rs767559716 0.0935 None gnomAD-2.1.1 4.02E-06
17729 53 L/V 138 rs767559716 0.0935 None gnomAD-4.0.0 6.84397E-07
17730 54 I/T 139 rs1337110210 0.2034 None gnomAD-2.1.1 3.19E-05
17730 54 I/T 139 rs1337110210 0.2034 None gnomAD-3.1.2 6.58E-06
17730 54 I/T 139 rs1337110210 0.2034 None gnomAD-4.0.0 6.58042E-06
17730 54 I/V 139 None 0.2034 None gnomAD-4.0.0 3.18454E-06
17731 55 I/N 140 rs72646809 0.1540 None gnomAD-2.1.1 4.02E-06
17731 55 I/N 140 rs72646809 0.1540 None gnomAD-4.0.0 1.36878E-06
17731 55 I/T 140 rs72646809 0.1540 None gnomAD-2.1.1 1.37245E-02
17731 55 I/T 140 rs72646809 0.1540 None gnomAD-3.1.2 1.10997E-02
17731 55 I/T 140 rs72646809 0.1540 None 1000 genomes 4.59265E-03
17731 55 I/T 140 rs72646809 0.1540 None gnomAD-4.0.0 1.1447E-02
17731 55 I/V 140 None 0.1540 None gnomAD-4.0.0 1.59225E-06
17732 56 K/R 141 rs2055177922 0.8172 None gnomAD-3.1.2 6.58E-06
17732 56 K/R 141 rs2055177922 0.8172 None gnomAD-4.0.0 6.57808E-06
17733 57 D/E 143 None 0.6345 None gnomAD-4.0.0 2.40064E-06
17734 58 A/T 144 None 0.1187 None gnomAD-4.0.0 1.59228E-06
17736 60 R/G 146 rs571702144 0.5072 None gnomAD-2.1.1 4.02E-06
17736 60 R/G 146 rs571702144 0.5072 None gnomAD-3.1.2 6.58E-06
17736 60 R/G 146 rs571702144 0.5072 None 1000 genomes 1.99681E-04
17736 60 R/G 146 rs571702144 0.5072 None gnomAD-4.0.0 6.57834E-06
17736 60 R/Q 146 rs766817830 0.5072 None gnomAD-2.1.1 6.84E-05
17736 60 R/Q 146 rs766817830 0.5072 None gnomAD-3.1.2 1.32E-05
17736 60 R/Q 146 rs766817830 0.5072 None gnomAD-4.0.0 2.66565E-05
17738 62 D/G 149 rs773447539 0.2063 None gnomAD-2.1.1 4.02E-06
17738 62 D/G 149 rs773447539 0.2063 None gnomAD-4.0.0 6.84395E-07
17738 62 D/V 149 rs773447539 0.2063 None gnomAD-2.1.1 4.83E-05
17738 62 D/V 149 rs773447539 0.2063 None gnomAD-3.1.2 3.29E-05
17738 62 D/V 149 rs773447539 0.2063 None gnomAD-4.0.0 2.23165E-05
17739 63 H/L 151 None 0.5735 None gnomAD-4.0.0 1.20032E-06
17739 63 H/N 151 rs1419607621 0.5735 None gnomAD-2.1.1 3.19E-05
17739 63 H/N 151 rs1419607621 0.5735 None gnomAD-3.1.2 1.32E-05
17739 63 H/N 151 rs1419607621 0.5735 None gnomAD-4.0.0 7.69235E-06
17739 63 H/R 151 rs1488100561 0.5735 None gnomAD-3.1.2 6.58E-06
17739 63 H/R 151 rs1488100561 0.5735 None gnomAD-4.0.0 6.57722E-06
17740 64 G/D 152 rs1219250375 0.2243 None gnomAD-2.1.1 8.04E-06
17740 64 G/D 152 rs1219250375 0.2243 None gnomAD-3.1.2 6.58E-06
17740 64 G/D 152 rs1219250375 0.2243 None gnomAD-4.0.0 3.84626E-06
17741 65 R/G 153 rs1189355872 0.3681 None gnomAD-3.1.2 6.58E-06
17741 65 R/G 153 rs1189355872 0.3681 None gnomAD-4.0.0 6.578E-06
17742 66 Y/C 154 None 0.1732 None gnomAD-4.0.0 1.59243E-06
17743 67 V/L 155 None 0.1693 None gnomAD-4.0.0 6.84428E-07
17743 67 V/M 155 None 0.1693 None gnomAD-4.0.0 1.36886E-06
17745 69 T/I 157 rs879245504 0.3437 None gnomAD-4.0.0 1.36887E-06
17745 69 T/K 157 rs879245504 0.3437 None gnomAD-2.1.1 4.02E-06
17745 69 T/K 157 rs879245504 0.3437 None gnomAD-4.0.0 6.84435E-07
17746 70 A/T 158 rs886055266 0.1091 None gnomAD-4.0.0 1.59247E-06
17748 72 N/D 161 rs1279556849 0.1169 None gnomAD-2.1.1 4.02E-06
17748 72 N/D 161 rs1279556849 0.1169 None gnomAD-4.0.0 1.59247E-06
17749 73 S/C 162 rs2055164382 0.6535 None gnomAD-3.1.2 6.58E-06
17749 73 S/C 162 rs2055164382 0.6535 None gnomAD-4.0.0 6.57722E-06
17749 73 S/N 162 rs1553686153 0.6535 None gnomAD-4.0.0 6.84432E-07
17749 73 S/T 162 rs1553686153 0.6535 None gnomAD-3.1.2 6.58E-06
17749 73 S/T 162 rs1553686153 0.6535 None gnomAD-4.0.0 4.33955E-06
17750 74 C/Y 163 rs1666217095 0.3359 None gnomAD-4.0.0 4.79106E-06
17751 75 G/D 164 None 0.2496 None gnomAD-4.0.0 1.36888E-06
17751 75 G/R 164 None 0.2496 None gnomAD-4.0.0 1.20032E-06
17753 77 K/N 166 rs1456581218 0.5595 None gnomAD-2.1.1 6.38E-05
17753 77 K/N 166 rs1456581218 0.5595 None gnomAD-3.1.2 6.58E-06
17753 77 K/N 166 rs1456581218 0.5595 None gnomAD-4.0.0 6.57782E-06
17753 77 K/R 166 None 0.5595 None gnomAD-4.0.0 1.20032E-06
17754 78 F/L 168 rs397517612 0.7564 None gnomAD-2.1.1 7.936E-04
17754 78 F/L 168 rs397517612 0.7564 None gnomAD-3.1.2 1.64441E-04
17754 78 F/L 168 rs397517612 0.7564 None 1000 genomes 3.99361E-04
17754 78 F/L 168 rs397517612 0.7564 None gnomAD-4.0.0 3.57058E-04
17754 78 F/S 168 rs749312983 0.7564 None gnomAD-2.1.1 1.46566E-04
17754 78 F/S 168 rs749312983 0.7564 None gnomAD-3.1.2 2.63E-05
17754 78 F/S 168 rs749312983 0.7564 None gnomAD-4.0.0 3.16146E-05
17755 79 A/V 169 rs777396852 0.1792 None gnomAD-2.1.1 4.03E-06
17757 81 A/V 172 rs1351014934 0.1716 None gnomAD-3.1.2 1.32E-05
17757 81 A/V 172 rs1351014934 0.1716 None gnomAD-4.0.0 3.72001E-06
17758 82 R/M 173 None 0.6109 None gnomAD-4.0.0 1.20032E-06
17758 82 R/S 173 rs755982578 0.6109 None gnomAD-2.1.1 4.03E-06
17759 83 V/L 174 rs752508699 0.1287 None gnomAD-2.1.1 4.03E-06
17759 83 V/L 174 rs752508699 0.1287 None gnomAD-4.0.0 1.59268E-06
17760 84 E/G 175 rs2055156080 0.2830 None gnomAD-4.0.0 1.20032E-06
17760 84 E/Q 175 None 0.2830 None gnomAD-4.0.0 1.5927E-06
17761 85 V/I 177 None 0.1256 None gnomAD-4.0.0 1.20032E-06