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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23726 1 I/N 1 None 0.5336 None gnomAD-4.0.0 1.59268E-06
23726 1 I/T 1 None 0.5336 None gnomAD-4.0.0 3.18536E-06
23728 3 G/A 3 rs781300567 0.2090 None gnomAD-2.1.1 4.04E-06
23728 3 G/A 3 rs781300567 0.2090 None gnomAD-4.0.0 1.5928E-06
23728 3 G/R 3 None 0.2090 None gnomAD-4.0.0 1.59271E-06
23729 4 P/R 4 None 0.4211 None gnomAD-4.0.0 1.20032E-06
23729 4 P/T 4 None 0.4211 None gnomAD-4.0.0 1.20032E-06
23730 5 P/S 5 None 0.1041 None gnomAD-4.0.0 1.36901E-06
23730 5 P/T 5 rs1709530947 0.1041 None gnomAD-4.0.0 6.84504E-07
23731 6 T/S 6 None 0.4002 None gnomAD-4.0.0 2.40064E-06
23732 7 G/R 7 rs747116393 0.5339 None gnomAD-2.1.1 4.05E-06
23732 7 G/R 7 rs747116393 0.5339 None gnomAD-4.0.0 1.36907E-06
23733 8 P/T 8 None 0.7296 None gnomAD-4.0.0 1.20032E-06
23734 9 I/M 9 rs780536082 0.1286 None gnomAD-3.1.2 6.58E-06
23734 9 I/M 9 rs780536082 0.1286 None gnomAD-4.0.0 6.57652E-06
23734 9 I/V 9 None 0.1286 None gnomAD-4.0.0 3.60097E-06
23735 10 K/R 11 None 0.4706 None gnomAD-4.0.0 1.59311E-06
23736 11 F/Y 12 None 0.3097 None gnomAD-4.0.0 4.10734E-06
23737 12 D/G 13 None 0.4553 None gnomAD-4.0.0 1.59329E-06
23737 12 D/N 13 rs758836824 0.4553 None gnomAD-2.1.1 8.11E-06
23737 12 D/N 13 rs758836824 0.4553 None gnomAD-3.1.2 6.58E-06
23737 12 D/N 13 rs758836824 0.4553 None gnomAD-4.0.0 9.30118E-06
23739 14 V/F 15 rs374485278 0.3120 None gnomAD-2.1.1 4.06E-06
23739 14 V/F 15 rs374485278 0.3120 None gnomAD-3.1.2 6.58E-06
23739 14 V/F 15 rs374485278 0.3120 None gnomAD-4.0.0 3.04486E-06
23740 15 S/L 16 rs757597284 0.1072 None gnomAD-2.1.1 1.62E-05
23740 15 S/L 16 rs757597284 0.1072 None gnomAD-3.1.2 6.58E-06
23740 15 S/L 16 rs757597284 0.1072 None gnomAD-4.0.0 8.06087E-06
23740 15 S/P 16 rs779202830 0.1072 None gnomAD-2.1.1 4.06E-06
23740 15 S/P 16 rs779202830 0.1072 None gnomAD-4.0.0 1.59345E-06
23741 16 S/F 17 rs1709521259 0.1060 None gnomAD-4.0.0 1.36922E-06
23742 17 D/H 18 rs1205041822 0.3488 None gnomAD-4.0.0 2.05389E-06
23742 17 D/N 18 rs1205041822 0.3488 None gnomAD-4.0.0 6.8463E-07
23744 19 V/I 20 rs2154171872 0.0834 None gnomAD-4.0.0 3.18712E-06
23745 20 T/A 21 rs1280984914 0.1470 None gnomAD-2.1.1 3.19E-05
23745 20 T/N 21 None 0.1470 None gnomAD-2.1.1 8.12E-06
23745 20 T/N 21 None 0.1470 None gnomAD-3.1.2 1.97E-05
23745 20 T/N 21 None 0.1470 None gnomAD-4.0.0 1.98422E-05
23748 23 W/R 24 rs1319154983 0.1111 None gnomAD-2.1.1 4.06E-06
23750 25 P/S 26 rs1308116861 0.4569 None gnomAD-2.1.1 4.06E-06
23750 25 P/S 26 rs1308116861 0.4569 None gnomAD-4.0.0 6.84612E-07
23750 25 P/T 26 rs1308116861 0.4569 None gnomAD-4.0.0 6.84612E-07
23752 27 E/K 28 rs1709511196 1.0453 None gnomAD-3.1.2 6.58E-06
23752 27 E/K 28 rs1709511196 1.0453 None gnomAD-4.0.0 6.57678E-06
23754 29 D/H 30 rs985842925 0.2440 None gnomAD-2.1.1 4.06E-06
23754 29 D/H 30 rs985842925 0.2440 None gnomAD-3.1.2 6.58E-06
23754 29 D/H 30 rs985842925 0.2440 None gnomAD-4.0.0 2.4801E-06
23754 29 D/N 30 rs985842925 0.2440 None gnomAD-2.1.1 4.06E-06
23754 29 D/N 30 rs985842925 0.2440 None gnomAD-3.1.2 2.63E-05
23754 29 D/N 30 rs985842925 0.2440 None gnomAD-4.0.0 1.79807E-05
23756 31 G/D 32 None 0.5085 None gnomAD-4.0.0 6.84527E-07
23756 31 G/S 32 None 0.5085 None gnomAD-4.0.0 1.36908E-06
23757 32 V/A 33 rs767128219 0.2450 None gnomAD-3.1.2 6.58E-06
23757 32 V/A 33 rs767128219 0.2450 None gnomAD-4.0.0 3.09992E-06
23757 32 V/G 33 rs767128219 0.2450 None gnomAD-2.1.1 1.22E-05
23757 32 V/I 33 rs1387996821 0.2450 None gnomAD-2.1.1 4.06E-06
23757 32 V/I 33 rs1387996821 0.2450 None gnomAD-4.0.0 3.4226E-06
23758 33 P/Q 34 rs374970767 0.6928 None gnomAD-2.1.1 4.06E-06
23758 33 P/Q 34 rs374970767 0.6928 None gnomAD-3.1.2 1.32E-05
23758 33 P/Q 34 rs374970767 0.6928 None gnomAD-4.0.0 3.84784E-06
23759 34 I/L 35 None 0.2196 None gnomAD-4.0.0 1.20032E-06
23759 34 I/V 35 rs751178599 0.2196 None gnomAD-2.1.1 4.05E-06
23760 35 S/I 36 rs765988593 0.3313 None gnomAD-2.1.1 4.05E-06
23760 35 S/I 36 rs765988593 0.3313 None gnomAD-4.0.0 1.59278E-06
23760 35 S/R 36 rs2154171828 0.3313 None gnomAD-2.1.1 1.22E-05
23760 35 S/R 36 rs2154171828 0.3313 None gnomAD-4.0.0 2.73797E-06
23761 36 N/S 37 None 0.1504 None gnomAD-4.0.0 1.20032E-06
23761 36 N/Y 37 rs1411198108 0.1504 None gnomAD-2.1.1 4.05E-06
23761 36 N/Y 37 rs1411198108 0.1504 None gnomAD-4.0.0 3.18555E-06
23762 37 Y/H 38 None 0.1153 None gnomAD-4.0.0 1.59271E-06
23763 38 V/I 39 None 0.1475 None gnomAD-4.0.0 2.40064E-06
23764 39 V/M 40 rs773302092 0.0764 None gnomAD-2.1.1 4.05E-06
23764 39 V/M 40 rs773302092 0.0764 None gnomAD-4.0.0 1.20032E-06
23766 41 M/I 42 rs1709497940 0.1593 None gnomAD-3.1.2 6.58E-06
23766 41 M/I 42 rs1709497940 0.1593 None gnomAD-4.0.0 1.20032E-06
23766 41 M/T 42 rs1709499328 0.1593 None gnomAD-3.1.2 6.58E-06
23766 41 M/T 42 rs1709499328 0.1593 None gnomAD-4.0.0 6.5773E-06
23767 42 R/Q 43 rs370516890 0.2022 None gnomAD-2.1.1 1.07924E-04
23767 42 R/Q 43 rs370516890 0.2022 None gnomAD-3.1.2 1.18429E-04
23767 42 R/Q 43 rs370516890 0.2022 None 1000 genomes 1.99681E-04
23767 42 R/Q 43 rs370516890 0.2022 None gnomAD-4.0.0 1.09125E-04
23767 42 R/W 43 rs532157196 0.2022 None gnomAD-2.1.1 8.11E-06
23767 42 R/W 43 rs532157196 0.2022 None gnomAD-3.1.2 1.97E-05
23767 42 R/W 43 rs532157196 0.2022 None 1000 genomes 1.99681E-04
23767 42 R/W 43 rs532157196 0.2022 None gnomAD-4.0.0 5.58005E-06
23768 43 Q/P 44 None 0.3340 None gnomAD-4.0.0 6.16112E-06
23769 44 T/A 50 rs776889753 0.2944 None gnomAD-2.1.1 8.11E-06
23769 44 T/A 50 rs776889753 0.2944 None gnomAD-4.0.0 1.43761E-05
23769 44 T/S 50 rs776889753 0.2944 None gnomAD-2.1.1 1.22E-05
23769 44 T/S 50 rs776889753 0.2944 None gnomAD-4.0.0 2.05372E-06
23770 45 D/E 54 rs1320217778 0.7989 None gnomAD-2.1.1 8.11E-06
23770 45 D/E 54 rs1320217778 0.7989 None gnomAD-4.0.0 3.18681E-06
23770 45 D/N 54 rs747260758 0.7989 None gnomAD-2.1.1 5.68E-05
23770 45 D/N 54 rs747260758 0.7989 None gnomAD-3.1.2 1.97E-05
23770 45 D/N 54 rs747260758 0.7989 None gnomAD-4.0.0 3.34813E-05
23770 45 D/Y 54 None 0.7989 None gnomAD-4.0.0 6.8463E-07
23773 48 T/I 64 rs775492043 0.6433 None gnomAD-3.1.2 6.58E-06
23773 48 T/I 64 rs775492043 0.6433 None gnomAD-4.0.0 1.24027E-06
23773 48 T/N 64 None 0.6433 None gnomAD-4.0.0 6.84655E-07
23773 48 T/S 64 rs775492043 0.6433 None gnomAD-2.1.1 8.1E-06
23773 48 T/S 64 rs775492043 0.6433 None gnomAD-4.0.0 4.79258E-06
23774 49 W/L 65 None 0.2557 None gnomAD-4.0.0 6.84885E-07
23775 50 V/L 66 rs377491708 0.5368 None gnomAD-2.1.1 1.22E-05
23775 50 V/L 66 rs377491708 0.5368 None gnomAD-4.0.0 1.09579E-05
23776 51 E/K 67 rs746336948 0.4324 None gnomAD-2.1.1 1.22E-05
23776 51 E/K 67 rs746336948 0.4324 None gnomAD-3.1.2 1.32E-05
23776 51 E/K 67 rs746336948 0.4324 None gnomAD-4.0.0 8.98673E-06
23778 53 A/G 69 rs973981142 0.1597 None gnomAD-2.1.1 4.06E-06
23778 53 A/G 69 rs973981142 0.1597 None gnomAD-4.0.0 5.47981E-06
23779 54 T/I 70 rs1709480973 0.4124 None gnomAD-3.1.2 6.58E-06
23779 54 T/I 70 rs1709480973 0.4124 None gnomAD-4.0.0 4.34229E-06
23779 54 T/P 70 rs1575793122 0.4124 None gnomAD-4.0.0 1.30136E-05
23780 55 T/A 75 rs375718660 0.7478 None gnomAD-2.1.1 4.06E-06
23780 55 T/A 75 rs375718660 0.7478 None gnomAD-4.0.0 1.36992E-06
23780 55 T/I 75 rs757622611 0.7478 None gnomAD-2.1.1 4.06E-06
23780 55 T/I 75 rs757622611 0.7478 None gnomAD-3.1.2 6.58E-06
23780 55 T/I 75 rs757622611 0.7478 None gnomAD-4.0.0 2.03013E-06
23781 56 V/I 77 rs146483596 0.1237 None gnomAD-2.1.1 4.32E-05
23781 56 V/I 77 rs146483596 0.1237 None gnomAD-3.1.2 3.95E-05
23781 56 V/I 77 rs146483596 0.1237 None 1000 genomes 3.99361E-04
23781 56 V/I 77 rs146483596 0.1237 None gnomAD-4.0.0 3.53615E-05
23782 57 I/T 83 rs1444831145 0.8903 None gnomAD-2.1.1 4.05E-06
23782 57 I/T 83 rs1444831145 0.8903 None gnomAD-3.1.2 1.31E-05
23782 57 I/T 83 rs1444831145 0.8903 None gnomAD-4.0.0 1.11651E-05
23782 57 I/V 83 rs2154171775 0.8903 None gnomAD-4.0.0 1.59504E-06
23783 58 R/C 88 rs754516257 0.8071 None gnomAD-2.1.1 8.11E-06
23783 58 R/C 88 rs754516257 0.8071 None gnomAD-4.0.0 4.10991E-06
23783 58 R/H 88 rs145504744 0.8071 None gnomAD-2.1.1 4.32E-05
23783 58 R/H 88 rs145504744 0.8071 None gnomAD-3.1.2 1.32E-05
23783 58 R/H 88 rs145504744 0.8071 None 1000 genomes 1.99681E-04
23783 58 R/H 88 rs145504744 0.8071 None gnomAD-4.0.0 3.28931E-05
23783 58 R/P 88 rs145504744 0.8071 None gnomAD-3.1.2 6.58E-06
23783 58 R/P 88 rs145504744 0.8071 None gnomAD-4.0.0 6.57635E-06
23784 59 T/I 89 None 0.1996 None gnomAD-4.0.0 1.59524E-06
23785 60 T/A 90 rs765937279 0.3620 None gnomAD-2.1.1 8.1E-06
23785 60 T/A 90 rs765937279 0.3620 None gnomAD-4.0.0 6.38048E-06
23785 60 T/I 90 None 0.3620 None gnomAD-4.0.0 1.20033E-06
23786 61 Y/C 91 rs758011912 0.1867 None gnomAD-2.1.1 8.1E-06
23786 61 Y/C 91 rs758011912 0.1867 None gnomAD-4.0.0 3.42477E-06
23786 61 Y/H 91 None 0.1867 None gnomAD-4.0.0 1.59516E-06
23787 62 K/E 92 None 0.2205 None gnomAD-4.0.0 8.40225E-06
23788 63 A/D 93 None 0.0844 None gnomAD-4.0.0 1.59504E-06
23788 63 A/T 93 rs1709470635 0.0844 None gnomAD-4.0.0 4.79479E-06
23789 64 T/A 94 None 0.4191 None gnomAD-4.0.0 6.84911E-07
23790 65 R/C 96 rs775743818 0.8326 None gnomAD-2.1.1 3.23E-05
23790 65 R/C 96 rs775743818 0.8326 None gnomAD-3.1.2 6.58E-06
23790 65 R/C 96 rs775743818 0.8326 None gnomAD-4.0.0 3.41152E-05
23790 65 R/G 96 None 0.8326 None gnomAD-4.0.0 6.8487E-07
23790 65 R/H 96 rs55677134 0.8326 None gnomAD-2.1.1 1.21492E-03
23790 65 R/H 96 rs55677134 0.8326 None gnomAD-3.1.2 7.03827E-04
23790 65 R/H 96 rs55677134 0.8326 None 1000 genomes 5.79073E-03
23790 65 R/H 96 rs55677134 0.8326 None gnomAD-4.0.0 7.80964E-04
23790 65 R/P 96 None 0.8326 None gnomAD-4.0.0 6.84947E-07
23791 66 L/I 97 rs765419522 0.1324 None gnomAD-4.0.0 6.00161E-06
23793 68 T/A 99 None 0.3652 None gnomAD-4.0.0 1.36947E-06
23793 68 T/S 99 rs1709465876 0.3652 None gnomAD-4.0.0 1.36947E-06
23796 71 E/D 103 rs878854330 0.2654 None gnomAD-4.0.0 1.59336E-06
23796 71 E/V 103 None 0.2654 None gnomAD-4.0.0 1.59334E-06
23798 73 Q/H 105 None 0.2121 None gnomAD-4.0.0 1.5929E-06
23798 73 Q/P 105 None 0.2121 None gnomAD-4.0.0 1.59297E-06
23799 74 F/L 106 rs1709458416 0.0900 None gnomAD-4.0.0 1.59277E-06
23800 75 R/C 107 rs760839756 0.1361 None gnomAD-2.1.1 8.07E-06
23800 75 R/C 107 rs760839756 0.1361 None gnomAD-3.1.2 6.58E-06
23800 75 R/H 107 rs537705563 0.1361 None gnomAD-2.1.1 3.94E-05
23800 75 R/H 107 rs537705563 0.1361 None gnomAD-3.1.2 3.29E-05
23800 75 R/H 107 rs537705563 0.1361 None gnomAD-4.0.0 2.5419E-05
23800 75 R/S 107 rs760839756 0.1361 None gnomAD-2.1.1 8.07E-06
23800 75 R/S 107 rs760839756 0.1361 None gnomAD-3.1.2 6.58E-06
23800 75 R/S 107 rs760839756 0.1361 None gnomAD-4.0.0 1.23994E-06
23802 77 K/N 109 rs1709454274 0.1864 None gnomAD-3.1.2 6.58E-06
23802 77 K/N 109 rs1709454274 0.1864 None gnomAD-4.0.0 6.5773E-06
23802 77 K/Q 109 rs1168152439 0.1864 None gnomAD-3.1.2 6.58E-06
23802 77 K/Q 109 rs1168152439 0.1864 None gnomAD-4.0.0 2.56416E-06
23803 78 A/S 110 rs772111329 0.0858 None gnomAD-2.1.1 8.06E-06
23803 78 A/S 110 rs772111329 0.0858 None gnomAD-3.1.2 6.58E-06
23803 78 A/S 110 rs772111329 0.0858 None gnomAD-4.0.0 2.56415E-06
23803 78 A/V 110 rs1553611543 0.0858 None gnomAD-4.0.0 4.79098E-06
23805 80 N/K 112 None 0.1113 None gnomAD-4.0.0 1.20032E-06
23806 81 R/I 113 None 0.5291 None gnomAD-4.0.0 1.20032E-06
23806 81 R/T 113 None 0.5291 None gnomAD-4.0.0 1.20032E-06
23807 82 Y/H 114 rs1709451594 0.6523 None gnomAD-4.0.0 1.20032E-06
23808 83 G/R 115 None 0.2122 None gnomAD-4.0.0 6.84393E-07
23810 85 G/V 118 None 0.1703 None gnomAD-4.0.0 1.59227E-06
23811 86 P/S 119 None 0.4471 None gnomAD-4.0.0 1.36878E-06
23812 87 G/D 120 rs1363526137 0.2626 None gnomAD-2.1.1 8.06E-06
23812 87 G/D 120 rs1363526137 0.2626 None gnomAD-4.0.0 4.10634E-06
23813 88 I/T 121 rs1304761942 0.1666 None gnomAD-2.1.1 4.03E-06
23813 88 I/T 121 rs1304761942 0.1666 None gnomAD-3.1.2 6.58E-06
23813 88 I/T 121 rs1304761942 0.1666 None gnomAD-4.0.0 3.84578E-06
23814 89 T/A 122 rs1425003858 0.3366 None gnomAD-2.1.1 4.03E-06
23814 89 T/A 122 rs1425003858 0.3366 None gnomAD-4.0.0 1.59227E-06
23814 89 T/I 122 None 0.3366 None gnomAD-4.0.0 1.20033E-06
23816 91 A/T 124 None 0.4960 None gnomAD-4.0.0 1.36883E-06
23816 91 A/V 124 rs1270658068 0.4960 None gnomAD-3.1.2 6.57E-06
23816 91 A/V 124 rs1270658068 0.4960 None gnomAD-4.0.0 3.84561E-06
23817 92 C/Y 126 None 0.3314 None gnomAD-4.0.0 1.20032E-06
23818 93 I/T 127 rs749803403 0.1824 None gnomAD-2.1.1 7.16E-05
23818 93 I/T 127 rs749803403 0.1824 None gnomAD-3.1.2 4.6E-05
23818 93 I/T 127 rs749803403 0.1824 None gnomAD-4.0.0 3.65736E-05
23818 93 I/V 127 rs776911847 0.1824 None gnomAD-2.1.1 8.23E-05
23818 93 I/V 127 rs776911847 0.1824 None gnomAD-3.1.2 7.23E-05
23818 93 I/V 127 rs776911847 0.1824 None gnomAD-4.0.0 3.5331E-05
23819 94 V/I 128 rs1709440654 0.3454 None gnomAD-3.1.2 6.58E-06
23819 94 V/I 128 rs1709440654 0.3454 None gnomAD-4.0.0 2.56401E-06
23821 96 N/T 131 None 0.4912 None gnomAD-4.0.0 1.59253E-06
23822 97 Y/N 132 None 0.7147 None gnomAD-4.0.0 2.40065E-06
23822 97 Y/S 132 rs1709438613 0.7147 None gnomAD-3.1.2 6.57E-06
23822 97 Y/S 132 rs1709438613 0.7147 None gnomAD-4.0.0 2.47971E-06