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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 90 100
K P S P P V N P E A I D T T C N S V D L T W Q P P R H D G G S K I L G Y I V E Y Q K V G D E E W R R A N H T P E S C P E T K Y K V T G L R D G Q T Y K F R V L A V N A A G E S D P A H V P E P V L V K D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19680 1 K/E 1 rs2050579789 0.5452 None gnomAD-4.0.0 1.59735E-06
19681 2 P/L 2 rs776257317 0.0984 None gnomAD-2.1.1 4.06E-06
19681 2 P/L 2 rs776257317 0.0984 None gnomAD-4.0.0 1.59714E-06
19681 2 P/Q 2 rs776257317 0.0984 None gnomAD-3.1.2 6.58E-06
19681 2 P/Q 2 rs776257317 0.0984 None gnomAD-4.0.0 2.57042E-06
19682 3 S/N 3 rs2050577486 0.1684 None gnomAD-3.1.2 6.58E-06
19682 3 S/N 3 rs2050577486 0.1684 None gnomAD-4.0.0 6.57722E-06
19682 3 S/R 3 rs1481744095 0.1684 None gnomAD-2.1.1 8.09E-06
19682 3 S/R 3 rs1481744095 0.1684 None gnomAD-4.0.0 3.18883E-06
19683 4 P/R 4 rs768307125 0.2694 None gnomAD-2.1.1 6.47E-05
19683 4 P/R 4 rs768307125 0.2694 None gnomAD-3.1.2 3.29E-05
19683 4 P/R 4 rs768307125 0.2694 None gnomAD-4.0.0 7.05856E-05
19684 5 P/H 5 None 0.1085 None gnomAD-4.0.0 1.20032E-06
19684 5 P/S 5 rs760619849 0.1085 None gnomAD-2.1.1 3.23E-05
19684 5 P/S 5 rs760619849 0.1085 None gnomAD-3.1.2 6.58E-06
19684 5 P/S 5 rs760619849 0.1085 None gnomAD-4.0.0 1.7364E-05
19687 8 P/L 9 rs1215759243 0.1614 None gnomAD-2.1.1 6.38E-05
19687 8 P/L 9 rs1215759243 0.1614 None gnomAD-3.1.2 2.63E-05
19687 8 P/L 9 rs1215759243 0.1614 None gnomAD-4.0.0 2.63238E-05
19688 9 E/Q 11 None 0.5295 None gnomAD-4.0.0 1.59269E-06
19689 10 A/V 12 None 0.3180 None gnomAD-4.0.0 1.59227E-06
19690 11 I/L 13 rs1305679009 0.4835 None gnomAD-2.1.1 4.03E-06
19690 11 I/L 13 rs1305679009 0.4835 None gnomAD-4.0.0 6.15944E-06
19690 11 I/T 13 rs1359437797 0.4835 None gnomAD-2.1.1 3.19E-05
19690 11 I/T 13 rs1359437797 0.4835 None gnomAD-3.1.2 2.63E-05
19690 11 I/T 13 rs1359437797 0.4835 None gnomAD-4.0.0 3.71918E-06
19690 11 I/V 13 rs1305679009 0.4835 None gnomAD-2.1.1 4.03E-06
19690 11 I/V 13 rs1305679009 0.4835 None gnomAD-4.0.0 6.84382E-07
19691 12 D/E 14 None 0.5676 None gnomAD-4.0.0 1.36873E-06
19692 13 T/A 15 rs771977738 0.3157 None gnomAD-2.1.1 5.24E-05
19692 13 T/A 15 rs771977738 0.3157 None gnomAD-4.0.0 1.09498E-05
19692 13 T/I 15 rs774404108 0.3157 None gnomAD-3.1.2 6.58E-06
19692 13 T/I 15 rs774404108 0.3157 None gnomAD-4.0.0 6.57687E-06
19692 13 T/K 15 None 0.3157 None gnomAD-2.1.1 8.06E-06
19692 13 T/K 15 None 0.3157 None gnomAD-4.0.0 2.05309E-06
19692 13 T/R 15 rs774404108 0.3157 None gnomAD-2.1.1 2.01E-05
19692 13 T/R 15 rs774404108 0.3157 None gnomAD-3.1.2 1.32E-05
19692 13 T/R 15 rs774404108 0.3157 None gnomAD-4.0.0 1.73562E-05
19693 14 T/A 16 rs1218974177 0.3254 None gnomAD-3.1.2 6.57E-06
19693 14 T/A 16 rs1218974177 0.3254 None gnomAD-4.0.0 6.57393E-06
19693 14 T/I 16 None 0.3254 None gnomAD-4.0.0 1.59206E-06
19694 15 C/Y 17 rs727505276 0.3085 None gnomAD-2.1.1 2.15E-05
19694 15 C/Y 17 rs727505276 0.3085 None gnomAD-3.1.2 1.05238E-04
19694 15 C/Y 17 rs727505276 0.3085 None gnomAD-4.0.0 1.92156E-05
19696 17 S/L 19 None 0.1646 None gnomAD-4.0.0 1.20032E-06
19697 18 V/A 20 rs1559608792 0.1064 None gnomAD-2.1.1 4.03E-06
19697 18 V/A 20 rs1559608792 0.1064 None gnomAD-4.0.0 1.59199E-06
19697 18 V/I 20 rs777789224 0.1064 None gnomAD-2.1.1 4.03E-06
19697 18 V/I 20 rs777789224 0.1064 None gnomAD-4.0.0 1.59198E-06
19698 19 D/A 21 rs878974246 0.2806 None gnomAD-3.1.2 6.58E-06
19698 19 D/A 21 rs878974246 0.2806 None gnomAD-4.0.0 4.9587E-06
19698 19 D/H 21 rs397517642 0.2806 None gnomAD-2.1.1 4.03E-06
19698 19 D/H 21 rs397517642 0.2806 None gnomAD-4.0.0 6.84343E-07
19698 19 D/N 21 None 0.2806 None gnomAD-2.1.1 1.21E-05
19698 19 D/N 21 None 0.2806 None gnomAD-4.0.0 6.84343E-06
19698 19 D/Y 21 rs397517642 0.2806 None gnomAD-2.1.1 1.21E-05
19698 19 D/Y 21 rs397517642 0.2806 None gnomAD-3.1.2 1.97E-05
19698 19 D/Y 21 rs397517642 0.2806 None gnomAD-4.0.0 9.29797E-06
19702 23 Q/H 25 rs1380151837 0.4751 None gnomAD-2.1.1 8.05E-06
19702 23 Q/H 25 rs1380151837 0.4751 None gnomAD-4.0.0 3.18388E-06
19703 24 P/A 26 rs1033900652 0.4721 None gnomAD-2.1.1 4.03E-06
19703 24 P/A 26 rs1033900652 0.4721 None gnomAD-3.1.2 1.97E-05
19703 24 P/A 26 rs1033900652 0.4721 None gnomAD-4.0.0 6.19843E-06
19703 24 P/L 26 None 0.4721 None gnomAD-4.0.0 1.20032E-06
19705 26 R/C 28 rs72646839 0.7279 None gnomAD-2.1.1 2.25274E-04
19705 26 R/C 28 rs72646839 0.7279 None gnomAD-3.1.2 2.36873E-04
19705 26 R/C 28 rs72646839 0.7279 None gnomAD-4.0.0 2.14462E-04
19705 26 R/H 28 rs727503590 0.7279 None gnomAD-2.1.1 2.15E-05
19705 26 R/H 28 rs727503590 0.7279 None gnomAD-3.1.2 3.29E-05
19705 26 R/H 28 rs727503590 0.7279 None gnomAD-4.0.0 1.6116E-05
19706 27 H/D 29 None 0.7216 None gnomAD-4.0.0 1.20036E-06
19706 27 H/L 29 None 0.7216 None gnomAD-4.0.0 1.20035E-06
19707 28 D/G 30 None 0.3747 None gnomAD-4.0.0 1.59189E-06
19707 28 D/H 30 None 0.3747 None gnomAD-4.0.0 1.20034E-06
19708 29 G/C 31 None 0.3650 None gnomAD-4.0.0 2.73731E-06
19708 29 G/S 31 rs1484810602 0.3650 None gnomAD-2.1.1 4.03E-06
19708 29 G/S 31 rs1484810602 0.3650 None gnomAD-4.0.0 6.84327E-07
19709 30 G/E 32 None 0.6583 None gnomAD-4.0.0 1.20032E-06
19710 31 S/N 33 None 0.2855 None gnomAD-4.0.0 1.59181E-06
19712 33 I/F 35 rs547436872 0.1987 None gnomAD-2.1.1 4.03E-06
19712 33 I/F 35 rs547436872 0.1987 None gnomAD-3.1.2 6.58E-06
19712 33 I/F 35 rs547436872 0.1987 None gnomAD-4.0.0 8.05745E-06
19712 33 I/L 35 rs547436872 0.1987 None gnomAD-2.1.1 4.03E-06
19712 33 I/L 35 rs547436872 0.1987 None gnomAD-3.1.2 6.58E-06
19712 33 I/L 35 rs547436872 0.1987 None 1000 genomes 1.99681E-04
19712 33 I/L 35 rs547436872 0.1987 None gnomAD-4.0.0 6.84302E-07
19712 33 I/M 35 rs928532463 0.1987 None gnomAD-2.1.1 4.03E-06
19712 33 I/M 35 rs928532463 0.1987 None gnomAD-4.0.0 3.18356E-06
19714 35 G/D 37 None 0.0959 None gnomAD-4.0.0 1.59179E-06
19716 37 I/T 39 rs763636451 0.0958 None gnomAD-4.0.0 2.05289E-06
19717 38 V/A 40 None 0.0893 None gnomAD-4.0.0 2.73722E-06
19717 38 V/I 40 rs1308382519 0.0893 None gnomAD-2.1.1 4.03E-06
19717 38 V/I 40 rs1308382519 0.0893 None gnomAD-4.0.0 3.18353E-06
19718 39 E/K 41 None 0.1189 None gnomAD-4.0.0 1.20032E-06
19719 40 Y/D 42 None 0.2383 None gnomAD-4.0.0 1.20032E-06
19722 43 V/A 50 rs116592778 0.4551 None gnomAD-2.1.1 1.2615E-03
19722 43 V/A 50 rs116592778 0.4551 None gnomAD-3.1.2 3.80926E-03
19722 43 V/A 50 rs116592778 0.4551 None 1000 genomes 4.39297E-03
19722 43 V/A 50 rs116592778 0.4551 None gnomAD-4.0.0 7.04069E-04
19722 43 V/G 50 None 0.4551 None gnomAD-4.0.0 6.84293E-07
19724 45 D/E 60 rs1373178934 0.4799 None gnomAD-4.0.0 1.3686E-06
19725 46 E/K 63 rs767601396 1.0216 None gnomAD-2.1.1 1.79E-05
19725 46 E/K 63 rs767601396 1.0216 None gnomAD-3.1.2 1.32E-05
19725 46 E/K 63 rs767601396 1.0216 None gnomAD-4.0.0 1.61151E-05
19725 46 E/Q 63 None 1.0216 None gnomAD-4.0.0 6.84294E-07
19725 46 E/V 63 rs1434751540 1.0216 None gnomAD-2.1.1 4.02E-06
19725 46 E/V 63 rs1434751540 1.0216 None gnomAD-4.0.0 3.18343E-06
19726 47 E/K 64 rs1356102019 0.8940 None gnomAD-3.1.2 1.32E-05
19726 47 E/K 64 rs1356102019 0.8940 None gnomAD-4.0.0 3.09903E-06
19726 47 E/Q 64 None 0.8940 None gnomAD-4.0.0 6.84291E-07
19727 48 W/R 65 rs759228350 0.2531 None gnomAD-2.1.1 4.02E-06
19727 48 W/R 65 rs759228350 0.2531 None gnomAD-4.0.0 6.84292E-07
19728 49 R/K 66 None 0.5999 None gnomAD-4.0.0 1.20032E-06
19730 51 A/D 68 rs1471424037 0.1967 None gnomAD-2.1.1 4.02E-06
19730 51 A/D 68 rs1471424037 0.1967 None gnomAD-4.0.0 1.59175E-06
19730 51 A/T 68 rs2050547088 0.1967 None gnomAD-4.0.0 1.20032E-06
19730 51 A/V 68 rs1471424037 0.1967 None gnomAD-3.1.2 6.58E-06
19730 51 A/V 68 rs1471424037 0.1967 None gnomAD-4.0.0 3.8454E-06
19731 52 N/K 69 rs774146313 0.1168 None gnomAD-2.1.1 4.02E-06
19731 52 N/K 69 rs774146313 0.1168 None gnomAD-4.0.0 1.59168E-06
19731 52 N/S 69 rs879073304 0.1168 None gnomAD-3.1.2 6.58E-06
19731 52 N/S 69 rs879073304 0.1168 None gnomAD-4.0.0 6.81795E-06
19733 54 T/I 72 rs749461231 0.4118 None gnomAD-2.1.1 4.02E-06
19733 54 T/I 72 rs749461231 0.4118 None gnomAD-4.0.0 1.59166E-06
19733 54 T/S 72 rs749461231 0.4118 None gnomAD-2.1.1 4.02E-06
19733 54 T/S 72 rs749461231 0.4118 None gnomAD-4.0.0 1.59166E-06
19734 55 P/A 73 rs563889482 0.1622 None gnomAD-2.1.1 4.02E-06
19734 55 P/A 73 rs563889482 0.1622 None gnomAD-3.1.2 6.58E-06
19734 55 P/A 73 rs563889482 0.1622 None gnomAD-4.0.0 6.58181E-06
19734 55 P/S 73 rs563889482 0.1622 None gnomAD-2.1.1 4.02E-06
19734 55 P/S 73 rs563889482 0.1622 None gnomAD-4.0.0 3.42142E-06
19735 56 E/A 74 rs769852851 0.3894 None gnomAD-4.0.0 9.57999E-06
19737 58 C/G 77 rs891241532 0.0781 None gnomAD-3.1.2 6.58E-06
19737 58 C/G 77 rs891241532 0.0781 None gnomAD-4.0.0 2.5632E-06
19737 58 C/Y 77 rs748295228 0.0781 None gnomAD-2.1.1 4.02E-06
19737 58 C/Y 77 rs748295228 0.0781 None gnomAD-4.0.0 1.59171E-06
19738 59 P/L 83 rs879199918 0.4814 None gnomAD-4.0.0 4.77509E-06
19739 60 E/A 88 None 0.5651 None gnomAD-4.0.0 1.20032E-06
19741 62 K/E 90 rs1283284446 0.5426 None gnomAD-3.1.2 6.58E-06
19741 62 K/E 90 rs1283284446 0.5426 None gnomAD-4.0.0 6.5773E-06
19741 62 K/T 90 rs1443597990 0.5426 None gnomAD-3.1.2 6.58E-06
19741 62 K/T 90 rs1443597990 0.5426 None gnomAD-4.0.0 2.03017E-06
19742 63 Y/C 91 rs1559607092 0.2453 None gnomAD-4.0.0 5.47446E-06
19744 65 V/A 93 None 0.1223 None gnomAD-4.0.0 1.20032E-06
19746 67 G/R 96 None 0.5531 None gnomAD-4.0.0 6.84321E-07
19746 67 G/S 96 rs372802352 0.5531 None gnomAD-2.1.1 5.36E-05
19746 67 G/S 96 rs372802352 0.5531 None gnomAD-3.1.2 1.11847E-04
19746 67 G/S 96 rs372802352 0.5531 None gnomAD-4.0.0 3.22322E-05
19747 68 L/F 97 rs369883019 0.1168 None gnomAD-2.1.1 1.07E-05
19747 68 L/F 97 rs369883019 0.1168 None gnomAD-3.1.2 6.58E-06
19747 68 L/F 97 rs369883019 0.1168 None gnomAD-4.0.0 2.47935E-06
19747 68 L/R 97 rs2154185954 0.1168 None gnomAD-4.0.0 1.20047E-06
19748 69 R/Q 98 rs142791877 0.7395 None gnomAD-2.1.1 2.14E-05
19748 69 R/Q 98 rs142791877 0.7395 None gnomAD-3.1.2 6.58E-06
19748 69 R/Q 98 rs142791877 0.7395 None 1000 genomes 1.99681E-04
19748 69 R/Q 98 rs142791877 0.7395 None gnomAD-4.0.0 1.92142E-05
19748 69 R/W 98 rs780429608 0.7395 None gnomAD-2.1.1 2.14E-05
19748 69 R/W 98 rs780429608 0.7395 None gnomAD-3.1.2 7.24E-05
19748 69 R/W 98 rs780429608 0.7395 None gnomAD-4.0.0 1.48761E-05
19749 70 D/G 99 rs1414991035 0.5846 None gnomAD-2.1.1 4.02E-06
19749 70 D/G 99 rs1414991035 0.5846 None gnomAD-3.1.2 6.58E-06
19749 70 D/G 99 rs1414991035 0.5846 None gnomAD-4.0.0 2.56316E-06
19749 70 D/N 99 rs2050531286 0.5846 None gnomAD-3.1.2 6.58E-06
19749 70 D/N 99 rs2050531286 0.5846 None gnomAD-4.0.0 6.57566E-06
19750 71 G/C 100 rs200732032 0.3274 None gnomAD-4.0.0 6.84323E-07
19750 71 G/D 100 None 0.3274 None gnomAD-4.0.0 1.20032E-05
19750 71 G/R 100 None 0.3274 None gnomAD-4.0.0 6.84323E-07
19750 71 G/S 100 rs200732032 0.3274 None gnomAD-2.1.1 1.10712E-04
19750 71 G/S 100 rs200732032 0.3274 None gnomAD-3.1.2 9.87E-05
19750 71 G/S 100 rs200732032 0.3274 None gnomAD-4.0.0 2.75831E-04
19753 74 Y/C 104 rs755651839 0.1015 None gnomAD-2.1.1 2.14E-05
19753 74 Y/C 104 rs755651839 0.1015 None gnomAD-3.1.2 2.63E-05
19753 74 Y/C 104 rs755651839 0.1015 None gnomAD-4.0.0 8.05749E-06
19754 75 K/E 105 rs752302911 0.3672 None gnomAD-2.1.1 4.02E-06
19754 75 K/E 105 rs752302911 0.3672 None gnomAD-4.0.0 1.59184E-06
19754 75 K/N 105 None 0.3672 None gnomAD-4.0.0 6.84316E-07
19755 76 F/L 106 None 0.1143 None gnomAD-4.0.0 6.84314E-07
19756 77 R/K 107 None 0.1366 None gnomAD-4.0.0 1.59184E-06
19757 78 V/A 108 rs574316788 0.0840 None gnomAD-2.1.1 8.05E-06
19757 78 V/A 108 rs574316788 0.0840 None gnomAD-3.1.2 1.97E-05
19757 78 V/A 108 rs574316788 0.0840 None 1000 genomes 1.99681E-04
19757 78 V/A 108 rs574316788 0.0840 None gnomAD-4.0.0 8.05774E-06
19758 79 L/S 109 None 0.1215 None gnomAD-4.0.0 7.20193E-06
19760 81 V/I 111 rs1207237676 0.1472 None gnomAD-2.1.1 3.19E-05
19761 82 N/S 112 rs563969986 0.1126 None gnomAD-2.1.1 3.85852E-04
19761 82 N/S 112 rs563969986 0.1126 None gnomAD-3.1.2 2.56366E-04
19761 82 N/S 112 rs563969986 0.1126 None 1000 genomes 7.98722E-04
19761 82 N/S 112 rs563969986 0.1126 None gnomAD-4.0.0 3.04919E-04
19762 83 A/E 113 rs1311886410 0.6305 None gnomAD-2.1.1 4.02E-06
19762 83 A/E 113 rs1311886410 0.6305 None gnomAD-3.1.2 6.57E-06
19762 83 A/E 113 rs1311886410 0.6305 None gnomAD-4.0.0 1.79746E-05
19763 84 A/T 114 rs372951248 0.4675 None gnomAD-2.1.1 8.05E-06
19763 84 A/T 114 rs372951248 0.4675 None gnomAD-4.0.0 2.40064E-06
19764 85 G/S 115 rs1239011047 0.2039 None gnomAD-4.0.0 1.20032E-06
19765 86 E/V 117 rs766141647 0.4518 None gnomAD-2.1.1 1.21E-05
19765 86 E/V 117 rs766141647 0.4518 None gnomAD-4.0.0 8.21192E-06
19767 88 D/E 119 rs2050519675 0.7941 None gnomAD-3.1.2 6.57E-06
19767 88 D/E 119 rs2050519675 0.7941 None gnomAD-4.0.0 2.4792E-06
19767 88 D/N 119 rs1559606296 0.7941 None gnomAD-2.1.1 4.02E-06
19767 88 D/N 119 rs1559606296 0.7941 None gnomAD-4.0.0 1.59191E-06
19770 91 H/R 122 rs762714656 0.3591 None gnomAD-2.1.1 4.03E-06
19770 91 H/R 122 rs762714656 0.3591 None gnomAD-4.0.0 1.59194E-06
19772 93 P/L 124 rs72646840 0.5776 None gnomAD-2.1.1 1.06161E-03
19772 93 P/L 124 rs72646840 0.5776 None gnomAD-3.1.2 3.06381E-03
19772 93 P/L 124 rs72646840 0.5776 None 1000 genomes 2.39617E-03
19772 93 P/L 124 rs72646840 0.5776 None gnomAD-4.0.0 6.8734E-04
19772 93 P/Q 124 None 0.5776 None gnomAD-4.0.0 2.05304E-06
19772 93 P/R 124 rs72646840 0.5776 None gnomAD-3.1.2 6.57E-06
19772 93 P/R 124 rs72646840 0.5776 None gnomAD-4.0.0 6.57462E-06
19772 93 P/T 124 rs773420166 0.5776 None gnomAD-2.1.1 4.03E-06
19772 93 P/T 124 rs773420166 0.5776 None gnomAD-3.1.2 6.58E-06
19772 93 P/T 124 rs773420166 0.5776 None gnomAD-4.0.0 1.8595E-06
19773 94 E/A 125 None 0.5891 None gnomAD-4.0.0 6.84345E-07
19773 94 E/G 125 rs371719028 0.5891 None gnomAD-2.1.1 2.21626E-04
19773 94 E/G 125 rs371719028 0.5891 None gnomAD-3.1.2 7.23275E-04
19773 94 E/G 125 rs371719028 0.5891 None 1000 genomes 5.99042E-04
19773 94 E/G 125 rs371719028 0.5891 None gnomAD-4.0.0 1.19619E-04
19775 96 V/D 127 rs2050514835 0.2135 None gnomAD-3.1.2 6.57E-06
19775 96 V/D 127 rs2050514835 0.2135 None gnomAD-4.0.0 6.57358E-06
19777 98 V/I 130 rs1178263259 0.0687 None gnomAD-4.0.0 2.05309E-06