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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22743 1 V/E 1 rs377290384 0.5038 None gnomAD-2.1.1 8.23E-06
22743 1 V/E 1 rs377290384 0.5038 None gnomAD-4.0.0 2.7459E-06
22743 1 V/G 1 rs377290384 0.5038 None gnomAD-2.1.1 1.23E-05
22743 1 V/G 1 rs377290384 0.5038 None gnomAD-3.1.2 1.97E-05
22743 1 V/G 1 rs377290384 0.5038 None gnomAD-4.0.0 3.72953E-06
22743 1 V/M 1 rs1444424656 0.5038 None gnomAD-3.1.2 6.58E-06
22743 1 V/M 1 rs1444424656 0.5038 None gnomAD-4.0.0 2.58065E-06
22744 2 P/R 2 rs1559481626 0.1143 None gnomAD-2.1.1 4.08E-06
22744 2 P/R 2 rs1559481626 0.1143 None gnomAD-4.0.0 1.60031E-06
22745 3 D/E 3 rs757244505 0.5557 None gnomAD-2.1.1 4.08E-06
22745 3 D/E 3 rs757244505 0.5557 None gnomAD-4.0.0 1.59935E-06
22746 4 A/P 4 rs1443692023 0.2460 None gnomAD-4.0.0 6.8577E-07
22746 4 A/S 4 rs1443692023 0.2460 None gnomAD-2.1.1 4.08E-06
22746 4 A/S 4 rs1443692023 0.2460 None gnomAD-4.0.0 6.8577E-07
22746 4 A/T 4 None 0.2460 None gnomAD-4.0.0 4.11462E-06
22748 6 P/L 6 rs780062324 0.3877 None gnomAD-2.1.1 1.63E-05
22748 6 P/L 6 rs780062324 0.3877 None gnomAD-4.0.0 2.12469E-05
22748 6 P/R 6 None 0.3877 None gnomAD-4.0.0 6.85384E-07
22749 7 P/H 7 None 0.3408 None gnomAD-4.0.0 2.05593E-06
22750 8 P/S 9 rs764562311 0.1352 None gnomAD-2.1.1 1.22E-05
22750 8 P/S 9 rs764562311 0.1352 None gnomAD-4.0.0 6.85264E-06
22751 9 N/S 11 rs761226149 0.6559 None gnomAD-2.1.1 1.22E-05
22751 9 N/S 11 rs761226149 0.6559 None gnomAD-3.1.2 6.58E-06
22751 9 N/S 11 rs761226149 0.6559 None gnomAD-4.0.0 9.92853E-06
22752 10 I/V 12 None 0.2595 None gnomAD-4.0.0 4.79615E-06
22753 11 V/A 13 None 0.6149 None gnomAD-4.0.0 6.85055E-07
22753 11 V/E 13 None 0.6149 None gnomAD-4.0.0 6.85055E-07
22753 11 V/L 13 None 0.6149 None gnomAD-4.0.0 6.85103E-07
22753 11 V/M 13 None 0.6149 None gnomAD-4.0.0 1.37021E-06
22754 12 D/H 14 None 0.4250 None gnomAD-4.0.0 6.85119E-07
22754 12 D/N 14 rs755823330 0.4250 None gnomAD-2.1.1 4.06E-06
22754 12 D/N 14 rs755823330 0.4250 None gnomAD-3.1.2 1.32E-05
22754 12 D/N 14 rs755823330 0.4250 None gnomAD-4.0.0 1.36515E-05
22757 15 H/N 17 None 0.3808 None gnomAD-4.0.0 1.20032E-06
22758 16 D/N 18 rs397517675 0.3621 None gnomAD-2.1.1 2.16E-05
22758 16 D/N 18 rs397517675 0.3621 None gnomAD-3.1.2 3.95E-05
22758 16 D/N 18 rs397517675 0.3621 None gnomAD-4.0.0 1.36486E-05
22759 17 S/A 19 None 0.1216 None gnomAD-4.0.0 1.20032E-06
22760 18 V/I 20 None 0.0959 None gnomAD-4.0.0 1.20032E-06
22760 18 V/L 20 None 0.0959 None gnomAD-4.0.0 1.20032E-06
22761 19 S/A 21 rs2047006376 0.2130 None gnomAD-3.1.2 6.58E-06
22761 19 S/A 21 rs2047006376 0.2130 None gnomAD-4.0.0 6.57566E-06
22761 19 S/F 21 rs397517676 0.2130 None gnomAD-3.1.2 1.32E-05
22762 20 L/P 22 rs1359881893 0.0869 None gnomAD-2.1.1 1.08E-05
22762 20 L/P 22 rs1359881893 0.0869 None gnomAD-3.1.2 3.94E-05
22762 20 L/P 22 rs1359881893 0.0869 None gnomAD-4.0.0 5.27282E-05
22762 20 L/R 22 None 0.0869 None gnomAD-4.0.0 6.84962E-07
22766 24 D/E 26 rs534340303 0.4553 None gnomAD-2.1.1 1.22115E-04
22766 24 D/E 26 rs534340303 0.4553 None gnomAD-3.1.2 5.92E-05
22766 24 D/E 26 rs534340303 0.4553 None 1000 genomes 3.99361E-04
22766 24 D/E 26 rs534340303 0.4553 None gnomAD-4.0.0 4.03215E-05
22766 24 D/H 26 rs759955348 0.4553 None gnomAD-2.1.1 4.05E-06
22766 24 D/H 26 rs759955348 0.4553 None gnomAD-4.0.0 1.5953E-06
22767 25 P/L 27 rs775953148 0.1470 None gnomAD-2.1.1 2.84E-05
22767 25 P/L 27 rs775953148 0.1470 None gnomAD-3.1.2 6.58E-06
22767 25 P/L 27 rs775953148 0.1470 None gnomAD-4.0.0 3.16422E-05
22767 25 P/R 27 None 0.1470 None gnomAD-4.0.0 6.85012E-07
22767 25 P/T 27 rs1358490975 0.1470 None gnomAD-2.1.1 8.1E-06
22767 25 P/T 27 rs1358490975 0.1470 None gnomAD-4.0.0 1.5955E-06
22768 26 K/N 28 None 1.0467 None gnomAD-4.0.0 6.85087E-07
22768 26 K/R 28 rs761210578 1.0467 None gnomAD-2.1.1 7.19E-06
22768 26 K/R 28 rs761210578 1.0467 None gnomAD-3.1.2 3.29E-05
22768 26 K/R 28 rs761210578 1.0467 None gnomAD-4.0.0 5.58341E-06
22770 28 T/I 30 rs2047000667 0.2900 None gnomAD-3.1.2 6.58E-06
22770 28 T/I 30 rs2047000667 0.2900 None gnomAD-4.0.0 1.86161E-06
22770 28 T/S 30 None 0.2900 None gnomAD-4.0.0 1.37035E-06
22771 29 G/R 31 rs1286938486 0.4852 None gnomAD-3.1.2 1.32E-05
22771 29 G/R 31 rs1286938486 0.4852 None gnomAD-4.0.0 6.42513E-06
22772 30 G/C 32 None 0.7084 None gnomAD-4.0.0 6.85506E-07
22772 30 G/D 32 None 0.7084 None gnomAD-4.0.0 6.85484E-07
22772 30 G/R 32 rs1559480997 0.7084 None gnomAD-4.0.0 4.79854E-06
22774 32 P/L 34 rs886042240 0.6867 None gnomAD-2.1.1 4.08E-06
22774 32 P/L 34 rs886042240 0.6867 None gnomAD-4.0.0 1.59854E-06
22775 33 I/T 35 None 0.1783 None gnomAD-4.0.0 2.40418E-06
22775 33 I/V 35 rs768713071 0.1783 None gnomAD-2.1.1 8.16E-06
22775 33 I/V 35 rs768713071 0.1783 None gnomAD-3.1.2 1.97E-05
22775 33 I/V 35 rs768713071 0.1783 None gnomAD-4.0.0 6.83411E-06
22776 34 T/I 36 rs1347609224 0.4160 None gnomAD-3.1.2 6.58E-06
22776 34 T/I 36 rs1347609224 0.4160 None gnomAD-4.0.0 6.57782E-06
22776 34 T/R 36 None 0.4160 None gnomAD-4.0.0 1.20373E-06
22777 35 G/A 37 None 0.0968 None gnomAD-4.0.0 1.60065E-06
22777 35 G/E 37 rs1291616891 0.0968 None gnomAD-2.1.1 4.08E-06
22777 35 G/E 37 rs1291616891 0.0968 None gnomAD-4.0.0 3.2013E-06
22777 35 G/R 37 rs2154174748 0.0968 None gnomAD-4.0.0 1.3749E-06
22778 36 Y/C 38 rs1331107431 0.0888 None gnomAD-3.1.2 6.57E-06
22778 36 Y/C 38 rs1331107431 0.0888 None gnomAD-4.0.0 2.57183E-06
22778 36 Y/H 38 rs376535279 0.0888 None gnomAD-2.1.1 4.07E-06
22778 36 Y/H 38 rs376535279 0.0888 None gnomAD-4.0.0 1.59983E-06
22779 37 H/N 39 rs727504702 0.1932 None gnomAD-2.1.1 4.06E-06
22779 37 H/N 39 rs727504702 0.1932 None gnomAD-3.1.2 6.58E-06
22779 37 H/N 39 rs727504702 0.1932 None gnomAD-4.0.0 3.85763E-06
22779 37 H/R 39 rs2046870032 0.1932 None gnomAD-4.0.0 1.20036E-06
22780 38 L/V 40 rs878857012 0.0899 None gnomAD-2.1.1 4.06E-06
22780 38 L/V 40 rs878857012 0.0899 None gnomAD-4.0.0 6.38943E-06
22781 39 E/K 41 rs760286642 0.1064 None gnomAD-2.1.1 3.24E-05
22781 39 E/K 41 rs760286642 0.1064 None gnomAD-3.1.2 4.6E-05
22781 39 E/K 41 rs760286642 0.1064 None gnomAD-4.0.0 1.61351E-05
22781 39 E/V 41 rs775528446 0.1064 None gnomAD-2.1.1 4.05E-06
22784 42 E/K 44 rs1423648586 0.1376 None gnomAD-2.1.1 4.04E-06
22784 42 E/K 44 rs1423648586 0.1376 None gnomAD-4.0.0 1.59477E-06
22788 46 L/P 63 rs745626806 1.1604 None gnomAD-2.1.1 4.44E-05
22788 46 L/P 63 rs745626806 1.1604 None gnomAD-4.0.0 1.84846E-05
22790 48 W/R 65 None 0.2186 None gnomAD-4.0.0 3.42272E-06
22791 49 K/R 66 rs774260031 0.5544 None gnomAD-2.1.1 1.61E-05
22791 49 K/R 66 rs774260031 0.5544 None gnomAD-4.0.0 2.19053E-05
22792 50 R/K 67 rs749459226 0.2526 None gnomAD-4.0.0 6.84502E-07
22792 50 R/S 67 None 0.2526 None gnomAD-4.0.0 1.20033E-06
22792 50 R/T 67 rs749459226 0.2526 None gnomAD-2.1.1 8.06E-06
22792 50 R/T 67 rs749459226 0.2526 None gnomAD-3.1.2 6.58E-06
22792 50 R/T 67 rs749459226 0.2526 None gnomAD-4.0.0 3.09983E-06
22794 52 N/K 69 rs528503786 0.1284 None gnomAD-3.1.2 6.58E-06
22794 52 N/K 69 rs528503786 0.1284 None gnomAD-4.0.0 6.57722E-06
22794 52 N/S 69 rs1252022777 0.1284 None gnomAD-2.1.1 4.03E-06
22794 52 N/S 69 rs1252022777 0.1284 None gnomAD-3.1.2 6.57E-06
22794 52 N/S 69 rs1252022777 0.1284 None gnomAD-4.0.0 2.56423E-06
22795 53 K/R 70 rs1311571163 1.0417 None gnomAD-2.1.1 4.03E-06
22795 53 K/R 70 rs1311571163 1.0417 None gnomAD-4.0.0 1.59261E-06
22796 54 T/I 72 rs756135570 0.7075 None gnomAD-2.1.1 8.06E-06
22796 54 T/I 72 rs756135570 0.7075 None gnomAD-4.0.0 3.18521E-06
22797 55 P/L 75 rs1371471381 0.4137 None gnomAD-2.1.1 7.16E-06
22797 55 P/L 75 rs1371471381 0.4137 None gnomAD-4.0.0 4.79122E-06
22797 55 P/Q 75 None 0.4137 None gnomAD-4.0.0 1.36892E-06
22798 56 I/M 77 rs2046857327 0.0928 None gnomAD-4.0.0 1.20032E-06
22798 56 I/R 77 None 0.0928 None gnomAD-4.0.0 6.84461E-07
22798 56 I/T 77 rs1444203818 0.0928 None gnomAD-2.1.1 4.03E-06
22798 56 I/T 77 rs1444203818 0.0928 None gnomAD-4.0.0 1.64271E-05
22799 57 R/M 83 rs760928333 0.8980 None gnomAD-2.1.1 4.03E-06
22799 57 R/M 83 rs760928333 0.8980 None gnomAD-4.0.0 6.84436E-06
22800 58 M/R 88 None 0.5786 None gnomAD-4.0.0 1.3692E-06
22800 58 M/T 88 rs751870146 0.5786 None gnomAD-2.1.1 8.06E-06
22800 58 M/T 88 rs751870146 0.5786 None gnomAD-3.1.2 1.32E-05
22800 58 M/T 88 rs751870146 0.5786 None gnomAD-4.0.0 1.86008E-06
22801 59 R/G 89 rs1465137040 0.4843 None gnomAD-2.1.1 4.03E-06
22801 59 R/G 89 rs1465137040 0.4843 None gnomAD-4.0.0 1.59241E-06
22803 61 F/L 91 None 0.2368 None gnomAD-4.0.0 6.84414E-07
22803 61 F/V 91 None 0.2368 None gnomAD-4.0.0 2.05323E-06
22806 64 T/A 94 None 0.5499 None gnomAD-4.0.0 1.36882E-06
22806 64 T/I 94 rs727503573 0.5499 None gnomAD-2.1.1 4.03E-05
22806 64 T/I 94 rs727503573 0.5499 None gnomAD-3.1.2 1.32E-05
22806 64 T/I 94 rs727503573 0.5499 None gnomAD-4.0.0 3.47157E-05
22807 65 G/E 96 None 0.5116 None gnomAD-4.0.0 1.59237E-06
22807 65 G/R 96 rs753494082 0.5116 None gnomAD-2.1.1 4.03E-06
22807 65 G/R 96 rs753494082 0.5116 None gnomAD-4.0.0 6.84419E-07
22809 67 T/S 98 None 0.5080 None gnomAD-4.0.0 1.20033E-06
22811 69 G/D 100 rs78806155 0.3339 None gnomAD-2.1.1 1.61E-05
22811 69 G/D 100 rs78806155 0.3339 None gnomAD-3.1.2 6.58E-06
22811 69 G/D 100 rs78806155 0.3339 None 1000 genomes 1.99681E-04
22811 69 G/D 100 rs78806155 0.3339 None gnomAD-4.0.0 6.19865E-06
22811 69 G/S 100 None 0.3339 None gnomAD-4.0.0 3.601E-06
22813 71 E/K 103 None 0.2001 None gnomAD-2.1.1 3.04134E-04
22813 71 E/K 103 None 0.2001 None gnomAD-3.1.2 1.77552E-04
22813 71 E/K 103 None 0.2001 None gnomAD-4.0.0 1.65513E-04
22813 71 E/Q 103 rs200797552 0.2001 None gnomAD-3.1.2 6.58E-06
22813 71 E/Q 103 rs200797552 0.2001 None gnomAD-4.0.0 1.23971E-06
22816 74 F/S 106 rs767342781 0.0949 None gnomAD-2.1.1 4.03E-06
22816 74 F/S 106 rs767342781 0.0949 None gnomAD-4.0.0 1.59243E-06
22816 74 F/Y 106 rs767342781 0.0949 None gnomAD-2.1.1 4.03E-06
22817 75 R/Q 107 rs372496072 0.1294 None gnomAD-2.1.1 4.29E-05
22817 75 R/Q 107 rs372496072 0.1294 None gnomAD-3.1.2 2.63E-05
22817 75 R/Q 107 rs372496072 0.1294 None gnomAD-4.0.0 1.36374E-05
22818 76 V/I 108 None 0.0680 None gnomAD-4.0.0 1.5925E-06
22818 76 V/L 108 None 0.0680 None gnomAD-4.0.0 1.5925E-06
22819 77 M/L 109 rs878959858 0.0901 None gnomAD-4.0.0 1.59252E-06
22819 77 M/T 109 rs770698117 0.0901 None gnomAD-2.1.1 4.03E-06
22819 77 M/T 109 rs770698117 0.0901 None gnomAD-3.1.2 1.31E-05
22819 77 M/T 109 rs770698117 0.0901 None gnomAD-4.0.0 1.05385E-05
22820 78 A/P 110 rs72646880 0.0852 None gnomAD-2.1.1 1.83585E-03
22820 78 A/P 110 rs72646880 0.0852 None gnomAD-3.1.2 1.58488E-03
22820 78 A/P 110 rs72646880 0.0852 None 1000 genomes 7.98722E-04
22820 78 A/P 110 rs72646880 0.0852 None gnomAD-4.0.0 1.86089E-03
22821 79 I/N 111 rs773379003 0.1125 None gnomAD-2.1.1 4.03E-06
22822 80 N/D 112 rs1002696442 0.1123 None gnomAD-4.0.0 1.59247E-06
22823 81 L/S 113 rs770040120 0.9358 None gnomAD-2.1.1 4.03E-06
22823 81 L/S 113 rs770040120 0.9358 None gnomAD-4.0.0 1.59253E-06
22825 83 G/D 115 rs376030605 0.2151 None gnomAD-2.1.1 4.03E-06
22825 83 G/D 115 rs376030605 0.2151 None gnomAD-3.1.2 6.58E-06
22825 83 G/D 115 rs376030605 0.2151 None gnomAD-4.0.0 2.5641E-06
22826 84 V/M 117 rs1399440525 0.4077 None gnomAD-2.1.1 4.03E-06
22826 84 V/M 117 rs1399440525 0.4077 None gnomAD-4.0.0 1.36889E-06
22827 85 G/S 118 rs781403843 0.1534 None gnomAD-2.1.1 3.23E-05
22827 85 G/S 118 rs781403843 0.1534 None gnomAD-3.1.2 6.58E-06
22827 85 G/S 118 rs781403843 0.1534 None gnomAD-4.0.0 9.29906E-06
22828 86 K/Q 119 None 0.8482 None gnomAD-4.0.0 1.59267E-06
22829 87 P/Q 120 rs747495409 0.3178 None gnomAD-2.1.1 3.19E-05
22829 87 P/Q 120 rs747495409 0.3178 None gnomAD-3.1.2 1.97E-05
22829 87 P/Q 120 rs747495409 0.3178 None gnomAD-4.0.0 1.97272E-05
22830 88 S/G 121 rs2046834527 0.0829 None gnomAD-3.1.2 1.31E-05
22830 88 S/G 121 rs2046834527 0.0829 None gnomAD-4.0.0 7.43893E-06
22831 89 L/P 122 None 0.8341 None gnomAD-4.0.0 6.37048E-06
22832 90 P/S 123 None 0.3220 None gnomAD-4.0.0 1.36896E-06
22833 91 S/L 124 rs876658077 0.1214 None gnomAD-4.0.0 1.59274E-06
22834 92 E/Q 125 rs557161476 0.7403 None gnomAD-3.1.2 6.57E-06
22834 92 E/Q 125 rs557161476 0.7403 None 1000 genomes 1.99681E-04
22834 92 E/Q 125 rs557161476 0.7403 None gnomAD-4.0.0 2.56394E-06
22835 93 P/A 126 rs750857565 0.3164 None gnomAD-2.1.1 1.61E-05
22835 93 P/A 126 rs750857565 0.3164 None gnomAD-4.0.0 6.37154E-06
22835 93 P/H 126 rs1187118062 0.3164 None gnomAD-2.1.1 4.03E-06
22835 93 P/H 126 rs1187118062 0.3164 None gnomAD-4.0.0 1.36904E-06
22835 93 P/L 126 None 0.3164 None gnomAD-4.0.0 6.8452E-07
22836 94 V/A 127 rs777547127 0.2221 None gnomAD-2.1.1 8.07E-06
22836 94 V/A 127 rs777547127 0.2221 None gnomAD-4.0.0 4.10718E-06
22836 94 V/F 127 rs1422284948 0.2221 None gnomAD-4.0.0 6.84542E-07
22836 94 V/I 127 rs1422284948 0.2221 None gnomAD-4.0.0 3.42271E-06
22837 95 V/L 129 None 0.3077 None gnomAD-4.0.0 4.77934E-06
22838 96 A/S 130 rs2046828341 0.0735 None gnomAD-3.1.2 6.58E-06
22838 96 A/S 130 rs2046828341 0.0735 None gnomAD-4.0.0 6.57514E-06
22838 96 A/V 130 rs372075439 0.0735 None gnomAD-2.1.1 3.23E-05
22838 96 A/V 130 rs372075439 0.0735 None gnomAD-3.1.2 1.31511E-04
22838 96 A/V 130 rs372075439 0.0735 None gnomAD-4.0.0 1.92204E-05
22839 97 L/P 131 None 0.4121 None gnomAD-4.0.0 1.20032E-06
22839 97 L/V 131 None 0.4121 None gnomAD-4.0.0 1.5935E-06
22840 98 D/E 132 None 0.4737 None gnomAD-4.0.0 1.59428E-06