Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

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 0.1770 None gnomAD-4.0.0 1.59198E-06
20782 14 K/E 18 None 0.7485 None gnomAD-4.0.0 1.20032E-06
20782 14 K/T 18 rs750969532 0.7485 None gnomAD-2.1.1 4.03E-06
20782 14 K/T 18 rs750969532 0.7485 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 0.5492 None gnomAD-2.1.1 8.04E-06
20835 67 K/E 145 rs765319119 0.5492 None gnomAD-4.0.0 1.59182E-06
20836 68 R/Q 146 rs201693851 0.6313 None gnomAD-2.1.1 1.03579E-04
20836 68 R/Q 146 rs201693851 0.6313 None gnomAD-3.1.2 1.11801E-04
20836 68 R/Q 146 rs201693851 0.6313 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 0.1427 None gnomAD-4.0.0 1.59262E-06