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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 0.1730 None gnomAD-4.0.0 6.84347E-07
20769 1 P/Q 1 None 0.1730 None gnomAD-2.1.1 1.07E-05
20769 1 P/Q 1 None 0.1730 None gnomAD-3.1.2 1.32E-05
20769 1 P/Q 1 None 0.1730 None gnomAD-4.0.0 1.85963E-06
20769 1 P/T 1 None 0.1730 None gnomAD-4.0.0 7.20193E-06
20770 2 V/A 2 rs532360660 0.4303 None gnomAD-2.1.1 4.03E-06
20770 2 V/A 2 rs532360660 0.4303 None gnomAD-3.1.2 6.58E-06
20770 2 V/A 2 rs532360660 0.4303 None 1000 genomes 1.99681E-04
20770 2 V/A 2 rs532360660 0.4303 None gnomAD-4.0.0 6.57237E-06
20771 3 L/F 3 rs1384039456 0.1680 None gnomAD-2.1.1 4.03E-06
20771 3 L/F 3 rs1384039456 0.1680 None gnomAD-4.0.0 6.84345E-07
20771 3 L/R 3 rs2049747701 0.1680 None gnomAD-3.1.2 6.58E-06
20771 3 L/R 3 rs2049747701 0.1680 None gnomAD-4.0.0 6.57765E-06
20771 3 L/V 3 None 0.1680 None gnomAD-4.0.0 2.73738E-06
20772 4 D/N 4 rs878925775 0.7059 None gnomAD-2.1.1 3.19E-05
20772 4 D/N 4 rs878925775 0.7059 None gnomAD-3.1.2 1.97E-05
20772 4 D/N 4 rs878925775 0.7059 None gnomAD-4.0.0 4.33889E-06
20773 5 L/M 5 None 0.2959 None gnomAD-2.1.1 9.66E-05
20773 5 L/M 5 None 0.2959 None gnomAD-3.1.2 2.6313E-04
20773 5 L/M 5 None 0.2959 None 1000 genomes 1.99681E-04
20773 5 L/M 5 None 0.2959 None gnomAD-4.0.0 4.5866E-05
20773 5 L/P 5 rs2049745835 0.2959 None gnomAD-4.0.0 7.95981E-06
20773 5 L/V 5 rs375173874 0.2959 None gnomAD-4.0.0 3.4217E-06
20774 6 K/Q 7 None 0.5766 None gnomAD-4.0.0 1.59195E-06
20774 6 K/R 7 None 0.5766 None gnomAD-4.0.0 1.20032E-06
20776 8 S/N 9 rs752393957 0.9649 None gnomAD-2.1.1 4.03E-06
20776 8 S/N 9 rs752393957 0.9649 None gnomAD-4.0.0 1.36867E-06
20776 8 S/R 9 None 0.9649 None gnomAD-4.0.0 1.59197E-06
20777 9 G/E 10 rs786205541 0.5308 None gnomAD-4.0.0 2.73735E-06
20777 9 G/V 10 None 0.5308 None gnomAD-4.0.0 6.84337E-07
20778 10 V/F 11 rs754672686 0.5229 None gnomAD-2.1.1 4.03E-06
20778 10 V/F 11 rs754672686 0.5229 None gnomAD-3.1.2 6.58E-06
20778 10 V/F 11 rs754672686 0.5229 None gnomAD-4.0.0 1.23972E-06
20778 10 V/I 11 None 0.5229 None gnomAD-4.0.0 6.84334E-07
20781 13 V/F 16 None 0.1768 None gnomAD-4.0.0 1.59198E-06
20782 14 K/E 18 None 0.6045 None gnomAD-4.0.0 1.20032E-06
20782 14 K/T 18 rs750969532 0.6045 None gnomAD-2.1.1 4.03E-06
20782 14 K/T 18 rs750969532 0.6045 None gnomAD-4.0.0 1.59199E-06
20784 16 G/A 24 rs1429834760 0.3163 None gnomAD-2.1.1 4.03E-06
20785 17 D/E 25 rs766020138 0.4030 None gnomAD-2.1.1 8.06E-06
20785 17 D/E 25 rs766020138 0.4030 None gnomAD-4.0.0 2.73738E-06
20785 17 D/Y 25 None 0.4030 None gnomAD-4.0.0 6.8434E-07
20786 18 T/A 26 None 0.3215 None gnomAD-4.0.0 1.20033E-06
20786 18 T/N 26 None 0.3215 None gnomAD-4.0.0 1.20032E-06
20787 19 I/N 28 None 0.1221 None gnomAD-4.0.0 6.84334E-07
20787 19 I/T 28 rs762932429 0.1221 None gnomAD-2.1.1 8.06E-06
20787 19 I/T 28 rs762932429 0.1221 None gnomAD-3.1.2 1.32E-05
20787 19 I/T 28 rs762932429 0.1221 None gnomAD-4.0.0 1.36365E-05
20787 19 I/V 28 None 0.1221 None gnomAD-4.0.0 1.59199E-06
20788 20 R/K 29 None 0.6985 None gnomAD-4.0.0 1.59205E-06
20788 20 R/S 29 None 0.6985 None gnomAD-4.0.0 1.20032E-06
20789 21 L/P 30 rs750434015 0.1819 None gnomAD-2.1.1 1.07E-05
20789 21 L/P 30 rs750434015 0.1819 None gnomAD-3.1.2 2.63E-05
20789 21 L/P 30 rs750434015 0.1819 None gnomAD-4.0.0 3.71921E-06
20790 22 E/A 31 None 0.2839 None gnomAD-4.0.0 1.20032E-06
20792 24 G/A 34 None 0.2048 None gnomAD-4.0.0 6.84381E-07
20792 24 G/E 34 rs1223753533 0.2048 None gnomAD-2.1.1 8.06E-06
20792 24 G/E 34 rs1223753533 0.2048 None gnomAD-4.0.0 2.05314E-06
20793 25 V/I 35 None 0.1401 None gnomAD-4.0.0 3.60097E-06
20794 26 R/G 38 rs1339109963 0.6872 None gnomAD-2.1.1 4.03E-06
20794 26 R/G 38 rs1339109963 0.6872 None gnomAD-4.0.0 1.59233E-06
20794 26 R/T 38 rs765092290 0.6872 None gnomAD-2.1.1 2.42E-05
20794 26 R/T 38 rs765092290 0.6872 None gnomAD-3.1.2 6.58E-06
20794 26 R/T 38 rs765092290 0.6872 None gnomAD-4.0.0 8.97399E-06
20795 27 G/S 40 rs761580423 0.2690 None gnomAD-2.1.1 2.42E-05
20795 27 G/S 40 rs761580423 0.2690 None gnomAD-3.1.2 6.58E-06
20795 27 G/S 40 rs761580423 0.2690 None gnomAD-4.0.0 1.2399E-05
20797 29 P/L 42 None 0.4858 None gnomAD-4.0.0 6.84547E-07
20797 29 P/Q 42 None 0.4858 None gnomAD-4.0.0 1.36909E-06
20798 30 F/L 43 None 0.3313 None gnomAD-4.0.0 1.08029E-05
20799 31 P/L 44 None 0.0983 None gnomAD-4.0.0 1.20032E-06
20799 31 P/S 44 None 0.0983 None gnomAD-4.0.0 3.42322E-06
20799 31 P/T 44 rs1300626441 0.0983 None gnomAD-2.1.1 8.06E-06
20799 31 P/T 44 rs1300626441 0.0983 None gnomAD-4.0.0 6.1618E-06
20800 32 E/G 45 rs1404277332 0.8563 None gnomAD-2.1.1 4.03E-06
20800 32 E/G 45 rs1404277332 0.8563 None gnomAD-4.0.0 1.59335E-06
20801 33 V/A 46 None 0.2729 None gnomAD-4.0.0 3.60097E-06
20801 33 V/I 46 None 0.2729 None gnomAD-4.0.0 6.84629E-07
20801 33 V/L 46 None 0.2729 None gnomAD-4.0.0 6.84629E-07
20802 34 A/V 47 rs1285688683 0.4018 None gnomAD-3.1.2 6.58E-06
20802 34 A/V 47 rs1285688683 0.4018 None gnomAD-4.0.0 6.57748E-06
20803 35 W/G 48 None 0.2156 None gnomAD-4.0.0 6.84568E-07
20803 35 W/R 48 rs376460156 0.2156 None gnomAD-2.1.1 4.03E-06
20803 35 W/R 48 rs376460156 0.2156 None gnomAD-3.1.2 1.97E-05
20803 35 W/R 48 rs376460156 0.2156 None gnomAD-4.0.0 1.86004E-05
20804 36 T/I 49 None 0.3552 None gnomAD-4.0.0 1.59303E-06
20804 36 T/N 49 rs1218971734 0.3552 None gnomAD-4.0.0 1.59303E-06
20804 36 T/P 49 rs760953518 0.3552 None gnomAD-2.1.1 8.05E-06
20804 36 T/P 49 rs760953518 0.3552 None gnomAD-4.0.0 3.18616E-06
20805 37 K/R 50 rs1308910919 0.1631 None gnomAD-4.0.0 1.20032E-06
20806 38 D/G 51 rs1425140267 0.4015 None gnomAD-2.1.1 8.05E-06
20806 38 D/G 51 rs1425140267 0.4015 None gnomAD-3.1.2 6.58E-06
20806 38 D/G 51 rs1425140267 0.4015 None gnomAD-4.0.0 3.84655E-06
20807 39 K/Q 52 None 1.1061 None gnomAD-4.0.0 1.59258E-06
20807 39 K/R 52 rs1361295739 1.1061 None gnomAD-2.1.1 3.19E-05
20807 39 K/R 52 rs1361295739 1.1061 None gnomAD-3.1.2 6.58E-06
20807 39 K/R 52 rs1361295739 1.1061 None gnomAD-4.0.0 6.57531E-06
20809 41 A/G 54 rs1576068414 0.7888 None gnomAD-4.0.0 1.59231E-06
20809 41 A/S 54 rs532844402 0.7888 None gnomAD-2.1.1 4.03E-06
20809 41 A/T 54 rs532844402 0.7888 None gnomAD-2.1.1 8.22E-05
20809 41 A/T 54 rs532844402 0.7888 None gnomAD-3.1.2 1.24964E-04
20809 41 A/T 54 rs532844402 0.7888 None 1000 genomes 1.99681E-04
20809 41 A/T 54 rs532844402 0.7888 None gnomAD-4.0.0 1.79776E-04
20809 41 A/V 54 None 0.7888 None gnomAD-4.0.0 1.59231E-06
20810 42 T/I 55 None 0.6291 None gnomAD-4.0.0 1.20032E-06
20811 43 D/G 56 rs72646849 0.4894 None gnomAD-2.1.1 2.07201E-04
20811 43 D/G 56 rs72646849 0.4894 None gnomAD-3.1.2 5.45931E-04
20811 43 D/G 56 rs72646849 0.4894 None 1000 genomes 1.39776E-03
20811 43 D/G 56 rs72646849 0.4894 None gnomAD-4.0.0 1.09093E-04
20811 43 D/N 56 rs1476150726 0.4894 None gnomAD-2.1.1 4.02E-06
20811 43 D/N 56 rs1476150726 0.4894 None gnomAD-4.0.0 3.18468E-06
20814 46 R/G 70 None 0.8042 None gnomAD-4.0.0 2.40064E-06
20816 48 P/L 109 None 0.7660 None gnomAD-4.0.0 6.84343E-07
20816 48 P/R 109 rs376951521 0.7660 None gnomAD-2.1.1 1.79E-05
20816 48 P/R 109 rs376951521 0.7660 None gnomAD-3.1.2 4.6E-05
20816 48 P/R 109 rs376951521 0.7660 None gnomAD-4.0.0 6.1985E-06
20817 49 R/K 115 None 0.2160 None gnomAD-4.0.0 1.59198E-06
20817 49 R/S 115 rs372984487 0.2160 None gnomAD-3.1.2 6.58E-06
20817 49 R/S 115 rs372984487 0.2160 None gnomAD-4.0.0 6.8434E-07
20817 49 R/W 115 None 0.2160 None gnomAD-4.0.0 4.79027E-06
20819 51 K/E 122 rs561142365 0.7730 None gnomAD-2.1.1 1.61E-05
20819 51 K/E 122 rs561142365 0.7730 None gnomAD-3.1.2 1.32E-05
20819 51 K/E 122 rs561142365 0.7730 None 1000 genomes 1.99681E-04
20819 51 K/E 122 rs561142365 0.7730 None gnomAD-4.0.0 4.95825E-06
20819 51 K/N 122 rs2049719955 0.7730 None gnomAD-3.1.2 6.58E-06
20819 51 K/N 122 rs2049719955 0.7730 None gnomAD-4.0.0 1.85953E-06
20819 51 K/R 122 rs780962150 0.7730 None gnomAD-4.0.0 1.71084E-05
20820 52 I/L 123 None 0.3205 None gnomAD-4.0.0 1.20032E-06
20820 52 I/M 123 None 0.3205 None gnomAD-4.0.0 1.20032E-06
20820 52 I/S 123 rs369446270 0.3205 None gnomAD-2.1.1 4.02E-06
20820 52 I/S 123 rs369446270 0.3205 None gnomAD-3.1.2 6.58E-06
20820 52 I/S 123 rs369446270 0.3205 None gnomAD-4.0.0 6.57713E-06
20820 52 I/T 123 rs369446270 0.3205 None gnomAD-2.1.1 3.93E-05
20820 52 I/T 123 rs369446270 0.3205 None gnomAD-3.1.2 1.32E-05
20820 52 I/T 123 rs369446270 0.3205 None gnomAD-4.0.0 4.33891E-05
20822 54 T/A 127 None 0.3822 None gnomAD-4.0.0 1.59191E-06
20822 54 T/S 127 rs376352599 0.3822 None gnomAD-2.1.1 8.04E-06
20822 54 T/S 127 rs376352599 0.3822 None gnomAD-3.1.2 1.97E-05
20822 54 T/S 127 rs376352599 0.3822 None gnomAD-4.0.0 2.10742E-05
20823 55 R/C 130 rs779686013 0.5975 None gnomAD-2.1.1 1.21E-05
20823 55 R/C 130 rs779686013 0.5975 None gnomAD-3.1.2 6.58E-06
20823 55 R/C 130 rs779686013 0.5975 None gnomAD-4.0.0 8.05786E-06
20823 55 R/H 130 rs758019778 0.5975 None gnomAD-2.1.1 5.23E-05
20823 55 R/H 130 rs758019778 0.5975 None gnomAD-3.1.2 3.29E-05
20823 55 R/H 130 rs758019778 0.5975 None gnomAD-4.0.0 2.85121E-05
20825 57 D/N 134 None 0.6148 None gnomAD-4.0.0 6.84326E-07
20827 59 S/P 136 rs1001628726 0.1256 None gnomAD-3.1.2 3.95E-05
20827 59 S/P 136 rs1001628726 0.1256 None gnomAD-4.0.0 8.05767E-06
20828 60 K/E 137 rs2154183659 0.4167 None gnomAD-4.0.0 3.18368E-06
20828 60 K/T 137 None 0.4167 None gnomAD-4.0.0 1.59184E-06
20829 61 F/C 138 rs878916429 0.0999 None gnomAD-2.1.1 4.02E-06
20829 61 F/C 138 rs878916429 0.0999 None gnomAD-3.1.2 3.95E-05
20829 61 F/C 138 rs878916429 0.0999 None gnomAD-4.0.0 1.48758E-05
20829 61 F/L 138 None 0.0999 None gnomAD-4.0.0 1.20032E-06
20830 62 S/Y 139 None 0.2305 None gnomAD-4.0.0 1.59178E-06
20831 63 L/R 140 None 0.1069 None gnomAD-4.0.0 1.59183E-06
20835 67 K/E 145 rs765319119 0.5491 None gnomAD-2.1.1 8.04E-06
20835 67 K/E 145 rs765319119 0.5491 None gnomAD-4.0.0 1.59182E-06
20836 68 R/Q 146 rs201693851 0.2687 None gnomAD-2.1.1 1.03579E-04
20836 68 R/Q 146 rs201693851 0.2687 None gnomAD-3.1.2 1.11801E-04
20836 68 R/Q 146 rs201693851 0.2687 None gnomAD-4.0.0 2.62804E-04
20838 70 D/N 149 None 0.1838 None gnomAD-4.0.0 1.36862E-06
20840 72 G/D 152 rs1326564200 0.2048 None gnomAD-2.1.1 1.21E-05
20840 72 G/D 152 rs1326564200 0.2048 None gnomAD-4.0.0 7.959E-06
20844 76 V/A 156 rs775731244 0.0900 None gnomAD-2.1.1 8.05E-06
20844 76 V/A 156 rs775731244 0.0900 None gnomAD-4.0.0 2.73721E-06
20845 77 T/K 157 None 0.2757 None gnomAD-4.0.0 6.84314E-07
20845 77 T/M 157 rs727505316 0.2757 None gnomAD-2.1.1 5.63E-05
20845 77 T/M 157 rs727505316 0.2757 None gnomAD-3.1.2 3.29E-05
20845 77 T/M 157 rs727505316 0.2757 None gnomAD-4.0.0 4.46271E-05
20845 77 T/R 157 rs727505316 0.2757 None gnomAD-2.1.1 4.29E-05
20845 77 T/R 157 rs727505316 0.2757 None gnomAD-3.1.2 6.58E-05
20845 77 T/R 157 rs727505316 0.2757 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 0.8457 None gnomAD-2.1.1 3.57E-05
20849 81 T/M 162 rs372685222 0.8457 None gnomAD-3.1.2 8.55E-05
20849 81 T/M 162 rs372685222 0.8457 None gnomAD-4.0.0 2.47935E-05
20850 82 A/V 163 rs2049701405 0.6377 None gnomAD-3.1.2 6.58E-06
20850 82 A/V 163 rs2049701405 0.6377 None gnomAD-4.0.0 6.57583E-06
20851 83 G/R 164 None 0.2845 None gnomAD-4.0.0 1.59195E-06
20853 85 F/L 166 None 0.3406 None gnomAD-4.0.0 1.59195E-06
20853 85 F/S 166 rs375844494 0.3406 None gnomAD-2.1.1 1.07E-05
20853 85 F/S 166 rs375844494 0.3406 None gnomAD-3.1.2 1.31E-05
20853 85 F/S 166 rs375844494 0.3406 None gnomAD-4.0.0 1.11568E-05
20854 86 V/M 168 rs746626221 0.3898 None gnomAD-2.1.1 4.03E-06
20854 86 V/M 168 rs746626221 0.3898 None gnomAD-4.0.0 1.59205E-06
20856 88 Y/C 171 rs373867080 0.6202 None gnomAD-2.1.1 5.72E-05
20856 88 Y/C 171 rs373867080 0.6202 None gnomAD-3.1.2 1.70933E-04
20856 88 Y/C 171 rs373867080 0.6202 None gnomAD-4.0.0 3.03734E-05
20856 88 Y/H 171 rs2049698441 0.6202 None gnomAD-4.0.0 2.40064E-06
20857 89 A/T 172 None 0.2013 None gnomAD-4.0.0 1.20032E-06
20857 89 A/V 172 rs371982026 0.2013 None gnomAD-2.1.1 1.61E-05
20857 89 A/V 172 rs371982026 0.2013 None gnomAD-3.1.2 5.26E-05
20857 89 A/V 172 rs371982026 0.2013 None gnomAD-4.0.0 1.30185E-05
20858 90 T/A 173 rs200689750 0.3417 None gnomAD-2.1.1 3.82624E-04
20858 90 T/A 173 rs200689750 0.3417 None gnomAD-3.1.2 2.76145E-04
20858 90 T/A 173 rs200689750 0.3417 None 1000 genomes 1.99681E-04
20858 90 T/A 173 rs200689750 0.3417 None gnomAD-4.0.0 5.65294E-04
20860 92 N/S 175 rs1405326036 0.4998 None gnomAD-4.0.0 3.42224E-06
20861 93 V/A 177 None 0.1162 None gnomAD-4.0.0 1.59262E-06