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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 V L D L K L S G V L T V K A G D T I R L E A G V R G K P F P E V A W T K D K D A T D L T R S P R V K I D T R A D S S K F S L T K A K R S D G G K Y V V T A T N T A G S F V A Y A T V N V L D K P G P V R N L K I V D V S S D R C T V C W D P P E D D G G C E I Q N Y I L E K C E T K R M V W S T Y S A T V L T P G T T V T R L I E G N E Y I F R V R A E N K I G T G P P T E S K P V I A K T K
P V L D L K L S G V L T V K A G D T I R L E A G V R G K P F P E V A W T K D K D A T D L T R S P R V K I D T R A D S S K F S L T K A K R S D G G K Y V V T A T N T A G S F V A Y A T V N 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
20769 1 P/L 1 rs772498581 0.1584 None gnomAD-4.0.0 6.84347E-07
20769 1 P/Q 1 None 0.1584 None gnomAD-2.1.1 1.07E-05
20769 1 P/Q 1 None 0.1584 None gnomAD-3.1.2 1.32E-05
20769 1 P/Q 1 None 0.1584 None gnomAD-4.0.0 1.85963E-06
20769 1 P/T 1 None 0.1584 None gnomAD-4.0.0 7.20193E-06
20770 2 V/A 2 rs532360660 0.3873 None gnomAD-2.1.1 4.03E-06
20770 2 V/A 2 rs532360660 0.3873 None gnomAD-3.1.2 6.58E-06
20770 2 V/A 2 rs532360660 0.3873 None 1000 genomes 1.99681E-04
20770 2 V/A 2 rs532360660 0.3873 None gnomAD-4.0.0 6.57237E-06
20771 3 L/F 3 rs1384039456 0.1358 None gnomAD-2.1.1 4.03E-06
20771 3 L/F 3 rs1384039456 0.1358 None gnomAD-4.0.0 6.84345E-07
20771 3 L/R 3 rs2049747701 0.1358 None gnomAD-3.1.2 6.58E-06
20771 3 L/R 3 rs2049747701 0.1358 None gnomAD-4.0.0 6.57765E-06
20771 3 L/V 3 None 0.1358 None gnomAD-4.0.0 2.73738E-06
20772 4 D/N 4 rs878925775 0.5410 None gnomAD-2.1.1 3.19E-05
20772 4 D/N 4 rs878925775 0.5410 None gnomAD-3.1.2 1.97E-05
20772 4 D/N 4 rs878925775 0.5410 None gnomAD-4.0.0 4.33889E-06
20773 5 L/M 5 None 0.2320 None gnomAD-2.1.1 9.66E-05
20773 5 L/M 5 None 0.2320 None gnomAD-3.1.2 2.6313E-04
20773 5 L/M 5 None 0.2320 None 1000 genomes 1.99681E-04
20773 5 L/M 5 None 0.2320 None gnomAD-4.0.0 4.5866E-05
20773 5 L/P 5 rs2049745835 0.2320 None gnomAD-4.0.0 7.95981E-06
20773 5 L/V 5 rs375173874 0.2320 None gnomAD-4.0.0 3.4217E-06
20774 6 K/Q 7 None 0.5597 None gnomAD-4.0.0 1.59195E-06
20774 6 K/R 7 None 0.5597 None gnomAD-4.0.0 1.20032E-06
20776 8 S/N 9 rs752393957 0.9420 None gnomAD-2.1.1 4.03E-06
20776 8 S/N 9 rs752393957 0.9420 None gnomAD-4.0.0 1.36867E-06
20776 8 S/R 9 None 0.9420 None gnomAD-4.0.0 1.59197E-06
20777 9 G/E 10 rs786205541 0.5078 None gnomAD-4.0.0 2.73735E-06
20777 9 G/V 10 None 0.5078 None gnomAD-4.0.0 6.84337E-07
20778 10 V/F 11 rs754672686 0.4614 None gnomAD-2.1.1 4.03E-06
20778 10 V/F 11 rs754672686 0.4614 None gnomAD-3.1.2 6.58E-06
20778 10 V/F 11 rs754672686 0.4614 None gnomAD-4.0.0 1.23972E-06
20778 10 V/I 11 None 0.4614 None gnomAD-4.0.0 6.84334E-07
20781 13 V/F 16 None 0.1745 None gnomAD-4.0.0 1.59198E-06
20782 14 K/E 18 None 0.5187 None gnomAD-4.0.0 1.20032E-06
20782 14 K/T 18 rs750969532 0.5187 None gnomAD-2.1.1 4.03E-06
20782 14 K/T 18 rs750969532 0.5187 None gnomAD-4.0.0 1.59199E-06
20784 16 G/A 24 rs1429834760 0.3259 None gnomAD-2.1.1 4.03E-06
20785 17 D/E 25 rs766020138 0.4289 None gnomAD-2.1.1 8.06E-06
20785 17 D/E 25 rs766020138 0.4289 None gnomAD-4.0.0 2.73738E-06
20785 17 D/Y 25 None 0.4289 None gnomAD-4.0.0 6.8434E-07
20786 18 T/A 26 None 0.2566 None gnomAD-4.0.0 1.20033E-06
20786 18 T/N 26 None 0.2566 None gnomAD-4.0.0 1.20032E-06
20787 19 I/N 28 None 0.1114 None gnomAD-4.0.0 6.84334E-07
20787 19 I/T 28 rs762932429 0.1114 None gnomAD-2.1.1 8.06E-06
20787 19 I/T 28 rs762932429 0.1114 None gnomAD-3.1.2 1.32E-05
20787 19 I/T 28 rs762932429 0.1114 None gnomAD-4.0.0 1.36365E-05
20787 19 I/V 28 None 0.1114 None gnomAD-4.0.0 1.59199E-06
20788 20 R/K 29 None 0.5409 None gnomAD-4.0.0 1.59205E-06
20788 20 R/S 29 None 0.5409 None gnomAD-4.0.0 1.20032E-06
20789 21 L/P 30 rs750434015 0.1456 None gnomAD-2.1.1 1.07E-05
20789 21 L/P 30 rs750434015 0.1456 None gnomAD-3.1.2 2.63E-05
20789 21 L/P 30 rs750434015 0.1456 None gnomAD-4.0.0 3.71921E-06
20790 22 E/A 31 None 0.2637 None gnomAD-4.0.0 1.20032E-06
20792 24 G/A 34 None 0.1625 None gnomAD-4.0.0 6.84381E-07
20792 24 G/E 34 rs1223753533 0.1625 None gnomAD-2.1.1 8.06E-06
20792 24 G/E 34 rs1223753533 0.1625 None gnomAD-4.0.0 2.05314E-06
20793 25 V/I 35 None 0.1088 None gnomAD-4.0.0 3.60097E-06
20794 26 R/G 38 rs1339109963 0.5270 None gnomAD-2.1.1 4.03E-06
20794 26 R/G 38 rs1339109963 0.5270 None gnomAD-4.0.0 1.59233E-06
20794 26 R/T 38 rs765092290 0.5270 None gnomAD-2.1.1 2.42E-05
20794 26 R/T 38 rs765092290 0.5270 None gnomAD-3.1.2 6.58E-06
20794 26 R/T 38 rs765092290 0.5270 None gnomAD-4.0.0 8.97399E-06
20795 27 G/S 40 rs761580423 0.2349 None gnomAD-2.1.1 2.42E-05
20795 27 G/S 40 rs761580423 0.2349 None gnomAD-3.1.2 6.58E-06
20795 27 G/S 40 rs761580423 0.2349 None gnomAD-4.0.0 1.2399E-05
20797 29 P/L 42 None 0.4770 None gnomAD-4.0.0 6.84547E-07
20797 29 P/Q 42 None 0.4770 None gnomAD-4.0.0 1.36909E-06
20798 30 F/L 43 None 0.2880 None gnomAD-4.0.0 1.08029E-05
20799 31 P/L 44 None 0.0913 None gnomAD-4.0.0 1.20032E-06
20799 31 P/S 44 None 0.0913 None gnomAD-4.0.0 3.42322E-06
20799 31 P/T 44 rs1300626441 0.0913 None gnomAD-2.1.1 8.06E-06
20799 31 P/T 44 rs1300626441 0.0913 None gnomAD-4.0.0 6.1618E-06
20800 32 E/G 45 rs1404277332 0.8402 None gnomAD-2.1.1 4.03E-06
20800 32 E/G 45 rs1404277332 0.8402 None gnomAD-4.0.0 1.59335E-06
20801 33 V/A 46 None 0.2627 None gnomAD-4.0.0 3.60097E-06
20801 33 V/I 46 None 0.2627 None gnomAD-4.0.0 6.84629E-07
20801 33 V/L 46 None 0.2627 None gnomAD-4.0.0 6.84629E-07
20802 34 A/V 47 rs1285688683 0.4218 None gnomAD-3.1.2 6.58E-06
20802 34 A/V 47 rs1285688683 0.4218 None gnomAD-4.0.0 6.57748E-06
20803 35 W/G 48 None 0.2178 None gnomAD-4.0.0 6.84568E-07
20803 35 W/R 48 rs376460156 0.2178 None gnomAD-2.1.1 4.03E-06
20803 35 W/R 48 rs376460156 0.2178 None gnomAD-3.1.2 1.97E-05
20803 35 W/R 48 rs376460156 0.2178 None gnomAD-4.0.0 1.86004E-05
20804 36 T/I 49 None 0.4111 None gnomAD-4.0.0 1.59303E-06
20804 36 T/N 49 rs1218971734 0.4111 None gnomAD-4.0.0 1.59303E-06
20804 36 T/P 49 rs760953518 0.4111 None gnomAD-2.1.1 8.05E-06
20804 36 T/P 49 rs760953518 0.4111 None gnomAD-4.0.0 3.18616E-06
20805 37 K/R 50 rs1308910919 0.1689 None gnomAD-4.0.0 1.20032E-06
20806 38 D/G 51 rs1425140267 0.4067 None gnomAD-2.1.1 8.05E-06
20806 38 D/G 51 rs1425140267 0.4067 None gnomAD-3.1.2 6.58E-06
20806 38 D/G 51 rs1425140267 0.4067 None gnomAD-4.0.0 3.84655E-06
20807 39 K/Q 52 None 1.1201 None gnomAD-4.0.0 1.59258E-06
20807 39 K/R 52 rs1361295739 1.1201 None gnomAD-2.1.1 3.19E-05
20807 39 K/R 52 rs1361295739 1.1201 None gnomAD-3.1.2 6.58E-06
20807 39 K/R 52 rs1361295739 1.1201 None gnomAD-4.0.0 6.57531E-06
20809 41 A/G 54 rs1576068414 0.7996 None gnomAD-4.0.0 1.59231E-06
20809 41 A/S 54 rs532844402 0.7996 None gnomAD-2.1.1 4.03E-06
20809 41 A/T 54 rs532844402 0.7996 None gnomAD-2.1.1 8.22E-05
20809 41 A/T 54 rs532844402 0.7996 None gnomAD-3.1.2 1.24964E-04
20809 41 A/T 54 rs532844402 0.7996 None 1000 genomes 1.99681E-04
20809 41 A/T 54 rs532844402 0.7996 None gnomAD-4.0.0 1.79776E-04
20809 41 A/V 54 None 0.7996 None gnomAD-4.0.0 1.59231E-06
20810 42 T/I 55 None 0.6846 None gnomAD-4.0.0 1.20032E-06
20811 43 D/G 56 rs72646849 0.4829 None gnomAD-2.1.1 2.07201E-04
20811 43 D/G 56 rs72646849 0.4829 None gnomAD-3.1.2 5.45931E-04
20811 43 D/G 56 rs72646849 0.4829 None 1000 genomes 1.39776E-03
20811 43 D/G 56 rs72646849 0.4829 None gnomAD-4.0.0 1.09093E-04
20811 43 D/N 56 rs1476150726 0.4829 None gnomAD-2.1.1 4.02E-06
20811 43 D/N 56 rs1476150726 0.4829 None gnomAD-4.0.0 3.18468E-06
20814 46 R/G 70 None 0.8095 None gnomAD-4.0.0 2.40064E-06
20816 48 P/L 109 None 0.7614 None gnomAD-4.0.0 6.84343E-07
20816 48 P/R 109 rs376951521 0.7614 None gnomAD-2.1.1 1.79E-05
20816 48 P/R 109 rs376951521 0.7614 None gnomAD-3.1.2 4.6E-05
20816 48 P/R 109 rs376951521 0.7614 None gnomAD-4.0.0 6.1985E-06
20817 49 R/K 115 None 0.2333 None gnomAD-4.0.0 1.59198E-06
20817 49 R/S 115 rs372984487 0.2333 None gnomAD-3.1.2 6.58E-06
20817 49 R/S 115 rs372984487 0.2333 None gnomAD-4.0.0 6.8434E-07
20817 49 R/W 115 None 0.2333 None gnomAD-4.0.0 4.79027E-06
20819 51 K/E 122 rs561142365 0.7595 None gnomAD-2.1.1 1.61E-05
20819 51 K/E 122 rs561142365 0.7595 None gnomAD-3.1.2 1.32E-05
20819 51 K/E 122 rs561142365 0.7595 None 1000 genomes 1.99681E-04
20819 51 K/E 122 rs561142365 0.7595 None gnomAD-4.0.0 4.95825E-06
20819 51 K/N 122 rs2049719955 0.7595 None gnomAD-3.1.2 6.58E-06
20819 51 K/N 122 rs2049719955 0.7595 None gnomAD-4.0.0 1.85953E-06
20819 51 K/R 122 rs780962150 0.7595 None gnomAD-4.0.0 1.71084E-05
20820 52 I/L 123 None 0.3191 None gnomAD-4.0.0 1.20032E-06
20820 52 I/M 123 None 0.3191 None gnomAD-4.0.0 1.20032E-06
20820 52 I/S 123 rs369446270 0.3191 None gnomAD-2.1.1 4.02E-06
20820 52 I/S 123 rs369446270 0.3191 None gnomAD-3.1.2 6.58E-06
20820 52 I/S 123 rs369446270 0.3191 None gnomAD-4.0.0 6.57713E-06
20820 52 I/T 123 rs369446270 0.3191 None gnomAD-2.1.1 3.93E-05
20820 52 I/T 123 rs369446270 0.3191 None gnomAD-3.1.2 1.32E-05
20820 52 I/T 123 rs369446270 0.3191 None gnomAD-4.0.0 4.33891E-05
20822 54 T/A 127 None 0.3740 None gnomAD-4.0.0 1.59191E-06
20822 54 T/S 127 rs376352599 0.3740 None gnomAD-2.1.1 8.04E-06
20822 54 T/S 127 rs376352599 0.3740 None gnomAD-3.1.2 1.97E-05
20822 54 T/S 127 rs376352599 0.3740 None gnomAD-4.0.0 2.10742E-05
20823 55 R/C 130 rs779686013 0.5804 None gnomAD-2.1.1 1.21E-05
20823 55 R/C 130 rs779686013 0.5804 None gnomAD-3.1.2 6.58E-06
20823 55 R/C 130 rs779686013 0.5804 None gnomAD-4.0.0 8.05786E-06
20823 55 R/H 130 rs758019778 0.5804 None gnomAD-2.1.1 5.23E-05
20823 55 R/H 130 rs758019778 0.5804 None gnomAD-3.1.2 3.29E-05
20823 55 R/H 130 rs758019778 0.5804 None gnomAD-4.0.0 2.85121E-05
20825 57 D/N 134 None 0.5840 None gnomAD-4.0.0 6.84326E-07
20827 59 S/P 136 rs1001628726 0.1125 None gnomAD-3.1.2 3.95E-05
20827 59 S/P 136 rs1001628726 0.1125 None gnomAD-4.0.0 8.05767E-06
20828 60 K/E 137 rs2154183659 0.4118 None gnomAD-4.0.0 3.18368E-06
20828 60 K/T 137 None 0.4118 None gnomAD-4.0.0 1.59184E-06
20829 61 F/C 138 rs878916429 0.0942 None gnomAD-2.1.1 4.02E-06
20829 61 F/C 138 rs878916429 0.0942 None gnomAD-3.1.2 3.95E-05
20829 61 F/C 138 rs878916429 0.0942 None gnomAD-4.0.0 1.48758E-05
20829 61 F/L 138 None 0.0942 None gnomAD-4.0.0 1.20032E-06
20830 62 S/Y 139 None 0.2232 None gnomAD-4.0.0 1.59178E-06
20831 63 L/R 140 None 0.1017 None gnomAD-4.0.0 1.59183E-06
20835 67 K/E 145 rs765319119 0.5611 None gnomAD-2.1.1 8.04E-06
20835 67 K/E 145 rs765319119 0.5611 None gnomAD-4.0.0 1.59182E-06
20836 68 R/Q 146 rs201693851 0.3534 None gnomAD-2.1.1 1.03579E-04
20836 68 R/Q 146 rs201693851 0.3534 None gnomAD-3.1.2 1.11801E-04
20836 68 R/Q 146 rs201693851 0.3534 None gnomAD-4.0.0 2.62804E-04
20838 70 D/N 149 None 0.1787 None gnomAD-4.0.0 1.36862E-06
20840 72 G/D 152 rs1326564200 0.2141 None gnomAD-2.1.1 1.21E-05
20840 72 G/D 152 rs1326564200 0.2141 None gnomAD-4.0.0 7.959E-06
20844 76 V/A 156 rs775731244 0.0794 None gnomAD-2.1.1 8.05E-06
20844 76 V/A 156 rs775731244 0.0794 None gnomAD-4.0.0 2.73721E-06
20845 77 T/K 157 None 0.2976 None gnomAD-4.0.0 6.84314E-07
20845 77 T/M 157 rs727505316 0.2976 None gnomAD-2.1.1 5.63E-05
20845 77 T/M 157 rs727505316 0.2976 None gnomAD-3.1.2 3.29E-05
20845 77 T/M 157 rs727505316 0.2976 None gnomAD-4.0.0 4.46271E-05
20845 77 T/R 157 rs727505316 0.2976 None gnomAD-2.1.1 4.29E-05
20845 77 T/R 157 rs727505316 0.2976 None gnomAD-3.1.2 6.58E-05
20845 77 T/R 157 rs727505316 0.2976 None gnomAD-4.0.0 2.97514E-05
20846 78 A/T 158 rs1467838556 0.0824 None gnomAD-2.1.1 4.02E-06
20846 78 A/T 158 rs1467838556 0.0824 None gnomAD-4.0.0 1.59183E-06
20846 78 A/V 158 rs1060500518 0.0824 None gnomAD-2.1.1 8.05E-06
20846 78 A/V 158 rs1060500518 0.0824 None gnomAD-3.1.2 1.32E-05
20846 78 A/V 158 rs1060500518 0.0824 None gnomAD-4.0.0 1.36363E-05
20849 81 T/M 162 rs372685222 0.8225 None gnomAD-2.1.1 3.57E-05
20849 81 T/M 162 rs372685222 0.8225 None gnomAD-3.1.2 8.55E-05
20849 81 T/M 162 rs372685222 0.8225 None gnomAD-4.0.0 2.47935E-05
20850 82 A/V 163 rs2049701405 0.6309 None gnomAD-3.1.2 6.58E-06
20850 82 A/V 163 rs2049701405 0.6309 None gnomAD-4.0.0 6.57583E-06
20851 83 G/R 164 None 0.2767 None gnomAD-4.0.0 1.59195E-06
20853 85 F/L 166 None 0.3315 None gnomAD-4.0.0 1.59195E-06
20853 85 F/S 166 rs375844494 0.3315 None gnomAD-2.1.1 1.07E-05
20853 85 F/S 166 rs375844494 0.3315 None gnomAD-3.1.2 1.31E-05
20853 85 F/S 166 rs375844494 0.3315 None gnomAD-4.0.0 1.11568E-05
20854 86 V/M 168 rs746626221 0.3917 None gnomAD-2.1.1 4.03E-06
20854 86 V/M 168 rs746626221 0.3917 None gnomAD-4.0.0 1.59205E-06
20856 88 Y/C 171 rs373867080 0.6310 None gnomAD-2.1.1 5.72E-05
20856 88 Y/C 171 rs373867080 0.6310 None gnomAD-3.1.2 1.70933E-04
20856 88 Y/C 171 rs373867080 0.6310 None gnomAD-4.0.0 3.03734E-05
20856 88 Y/H 171 rs2049698441 0.6310 None gnomAD-4.0.0 2.40064E-06
20857 89 A/T 172 None 0.1665 None gnomAD-4.0.0 1.20032E-06
20857 89 A/V 172 rs371982026 0.1665 None gnomAD-2.1.1 1.61E-05
20857 89 A/V 172 rs371982026 0.1665 None gnomAD-3.1.2 5.26E-05
20857 89 A/V 172 rs371982026 0.1665 None gnomAD-4.0.0 1.30185E-05
20858 90 T/A 173 rs200689750 0.3359 None gnomAD-2.1.1 3.82624E-04
20858 90 T/A 173 rs200689750 0.3359 None gnomAD-3.1.2 2.76145E-04
20858 90 T/A 173 rs200689750 0.3359 None 1000 genomes 1.99681E-04
20858 90 T/A 173 rs200689750 0.3359 None gnomAD-4.0.0 5.65294E-04
20860 92 N/S 175 rs1405326036 0.4743 None gnomAD-4.0.0 3.42224E-06
20861 93 V/A 177 None 0.1237 None gnomAD-4.0.0 1.59262E-06