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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31622 2 G/D 8 None 0.6116 None gnomAD-4.0.0 1.59229E-06
31622 2 G/S 8 rs1385680314 0.6116 None gnomAD-4.0.0 2.05357E-06
31623 3 D/G 9 None 1.1718 None gnomAD-4.0.0 6.84334E-07
31625 5 V/I 13 rs1697179878 0.4112 None gnomAD-3.1.2 6.57E-06
31625 5 V/I 13 rs1697179878 0.4112 None gnomAD-4.0.0 6.57358E-06
31626 6 T/I 14 rs542160074 0.5407 None gnomAD-2.1.1 1.62E-05
31626 6 T/I 14 rs542160074 0.5407 None gnomAD-3.1.2 6.57E-06
31626 6 T/I 14 rs542160074 0.5407 None gnomAD-4.0.0 7.68819E-06
31626 6 T/N 14 rs542160074 0.5407 None gnomAD-2.1.1 4.04E-06
31626 6 T/N 14 rs542160074 0.5407 None gnomAD-3.1.2 6.57E-06
31626 6 T/N 14 rs542160074 0.5407 None 1000 genomes 1.99681E-04
31626 6 T/N 14 rs542160074 0.5407 None gnomAD-4.0.0 6.56737E-06
31627 7 I/L 16 None 0.1621 None gnomAD-4.0.0 1.59161E-06
31627 7 I/M 16 None 0.1621 None gnomAD-4.0.0 1.36855E-06
31627 7 I/T 16 rs751714990 0.1621 None gnomAD-2.1.1 2.02E-05
31627 7 I/T 16 rs751714990 0.1621 None gnomAD-3.1.2 1.97E-05
31627 7 I/T 16 rs751714990 0.1621 None gnomAD-4.0.0 3.2227E-05
31628 8 R/K 18 rs1697174649 0.5025 None gnomAD-4.0.0 1.59161E-06
31629 9 A/T 23 rs758521497 0.2925 None gnomAD-2.1.1 2.51E-05
31629 9 A/T 23 rs758521497 0.2925 None gnomAD-3.1.2 2.63E-05
31629 9 A/T 23 rs758521497 0.2925 None gnomAD-4.0.0 6.81714E-06
31630 10 G/D 24 rs576480657 0.2973 None gnomAD-2.1.1 4.03E-06
31630 10 G/D 24 rs576480657 0.2973 None gnomAD-3.1.2 6.57E-06
31630 10 G/D 24 rs576480657 0.2973 None 1000 genomes 1.99681E-04
31630 10 G/D 24 rs576480657 0.2973 None gnomAD-4.0.0 6.56754E-06
31630 10 G/R 24 rs1697172805 0.2973 None gnomAD-4.0.0 1.59151E-06
31631 11 S/F 25 rs765646839 0.2731 None gnomAD-2.1.1 4.03E-06
31631 11 S/F 25 rs765646839 0.2731 None gnomAD-4.0.0 3.18303E-06
31632 12 D/A 26 None 0.4214 None gnomAD-4.0.0 1.20032E-06
31634 14 V/G 29 rs1697167076 0.5145 None gnomAD-4.0.0 2.05272E-06
31634 14 V/L 29 rs762250254 0.5145 None gnomAD-2.1.1 4.03E-06
31634 14 V/L 29 rs762250254 0.5145 None gnomAD-4.0.0 1.59143E-06
31636 16 D/G 31 rs767187943 0.5012 None gnomAD-2.1.1 8.06E-06
31636 16 D/G 31 rs767187943 0.5012 None gnomAD-3.1.2 1.31E-05
31636 16 D/G 31 rs767187943 0.5012 None gnomAD-4.0.0 3.71834E-06
31636 16 D/N 31 rs776793953 0.5012 None gnomAD-2.1.1 1.65199E-04
31636 16 D/N 31 rs776793953 0.5012 None gnomAD-3.1.2 1.97E-05
31636 16 D/N 31 rs776793953 0.5012 None gnomAD-4.0.0 7.49812E-05
31637 17 A/P 33 rs1238019151 0.2258 None gnomAD-3.1.2 6.57E-06
31637 17 A/P 33 rs1238019151 0.2258 None gnomAD-4.0.0 6.57341E-06
31637 17 A/V 33 rs1384723170 0.2258 None gnomAD-2.1.1 3.19E-05
31637 17 A/V 33 rs1384723170 0.2258 None gnomAD-3.1.2 2.63E-05
31637 17 A/V 33 rs1384723170 0.2258 None gnomAD-4.0.0 7.43667E-06
31638 18 A/V 34 rs1194896401 0.6406 None gnomAD-2.1.1 1.21E-05
31638 18 A/V 34 rs1194896401 0.6406 None gnomAD-4.0.0 6.84227E-06
31639 19 V/A 35 rs759136839 0.2092 None gnomAD-2.1.1 4.03E-06
31639 19 V/A 35 rs759136839 0.2092 None gnomAD-4.0.0 1.20032E-06
31640 20 G/C 38 rs773967663 0.6104 None gnomAD-2.1.1 4.03E-06
31640 20 G/C 38 rs773967663 0.6104 None gnomAD-4.0.0 6.84222E-07
31640 20 G/D 38 rs1697151144 0.6104 None gnomAD-4.0.0 1.20032E-06
31640 20 G/R 38 rs773967663 0.6104 None gnomAD-4.0.0 1.36844E-06
31640 20 G/S 38 None 0.6104 None gnomAD-2.1.1 8.06E-06
31640 20 G/S 38 None 0.6104 None gnomAD-4.0.0 6.158E-06
31640 20 G/V 38 rs1697151144 0.6104 None gnomAD-3.1.2 6.57E-06
31640 20 G/V 38 rs1697151144 0.6104 None gnomAD-4.0.0 6.57445E-06
31641 21 G/S 40 None 0.4127 None gnomAD-4.0.0 1.20032E-06
31642 22 K/R 41 None 0.9862 None gnomAD-4.0.0 1.36843E-06
31644 24 E/D 43 rs1281349835 0.7935 None gnomAD-2.1.1 8.05E-06
31644 24 E/D 43 rs1281349835 0.7935 None gnomAD-3.1.2 6.57E-06
31644 24 E/D 43 rs1281349835 0.7935 None gnomAD-4.0.0 1.85912E-05
31644 24 E/K 43 rs958594083 0.7935 None gnomAD-2.1.1 1.79E-05
31644 24 E/K 43 rs958594083 0.7935 None gnomAD-3.1.2 3.95E-05
31644 24 E/K 43 rs958594083 0.7935 None gnomAD-4.0.0 2.04513E-05
31645 25 P/A 44 None 0.2218 None gnomAD-4.0.0 6.84223E-07
31645 25 P/H 44 rs1347498882 0.2218 None gnomAD-2.1.1 4.02E-06
31645 25 P/H 44 rs1347498882 0.2218 None gnomAD-4.0.0 4.77404E-06
31645 25 P/L 44 None 0.2218 None gnomAD-4.0.0 1.59135E-06
31645 25 P/S 44 rs770465865 0.2218 None gnomAD-2.1.1 1.61E-05
31645 25 P/S 44 rs770465865 0.2218 None gnomAD-4.0.0 8.21067E-06
31645 25 P/T 44 rs770465865 0.2218 None gnomAD-2.1.1 4.03E-06
31645 25 P/T 44 rs770465865 0.2218 None gnomAD-4.0.0 6.84223E-07
31646 26 K/T 45 None 0.7654 None gnomAD-4.0.0 1.20032E-06
31648 28 I/F 47 rs1409620740 0.3495 None gnomAD-2.1.1 4.02E-06
31648 28 I/F 47 rs1409620740 0.3495 None gnomAD-4.0.0 1.59127E-06
31648 28 I/V 47 None 0.3495 None gnomAD-4.0.0 1.59127E-06
31649 29 W/C 48 None 0.1680 None gnomAD-4.0.0 6.84214E-07
31649 29 W/R 48 rs1697138621 0.1680 None gnomAD-3.1.2 6.57E-06
31649 29 W/R 48 rs1697138621 0.1680 None gnomAD-4.0.0 6.57341E-06
31651 31 K/N 50 rs188002699 0.2045 None gnomAD-3.1.2 6.57E-06
31651 31 K/N 50 rs188002699 0.2045 None 1000 genomes 1.99681E-04
31651 31 K/N 50 rs188002699 0.2045 None gnomAD-4.0.0 6.5697E-06
31652 32 G/R 51 None 0.3277 None gnomAD-4.0.0 1.59128E-06
31653 33 D/E 52 rs546302731 1.1598 None gnomAD-2.1.1 1.61E-05
31653 33 D/E 52 rs546302731 1.1598 None gnomAD-4.0.0 4.78951E-06
31653 33 D/N 52 rs1697134588 1.1598 None gnomAD-3.1.2 6.57E-06
31653 33 D/N 52 rs1697134588 1.1598 None gnomAD-4.0.0 2.5623E-06
31654 34 K/E 55 None 0.8500 None gnomAD-4.0.0 1.59128E-06
31654 34 K/N 55 None 0.8500 None gnomAD-4.0.0 1.20032E-06
31655 35 E/A 56 None 0.5393 None gnomAD-4.0.0 3.18252E-06
31655 35 E/D 56 rs769555143 0.5393 None gnomAD-2.1.1 4.02E-06
31655 35 E/D 56 rs769555143 0.5393 None gnomAD-3.1.2 6.57E-06
31655 35 E/D 56 rs769555143 0.5393 None gnomAD-4.0.0 2.47884E-06
31655 35 E/K 56 None 0.5393 None gnomAD-4.0.0 1.20032E-06
31656 36 L/I 58 rs748010504 0.2546 None gnomAD-2.1.1 4.02E-06
31656 36 L/I 58 rs748010504 0.2546 None gnomAD-4.0.0 6.84219E-07
31656 36 L/V 58 rs748010504 0.2546 None gnomAD-4.0.0 6.84219E-07
31657 37 D/E 69 rs781088841 0.8759 None gnomAD-2.1.1 4.02E-06
31657 37 D/E 69 rs781088841 0.8759 None gnomAD-4.0.0 3.42103E-06
31658 38 L/I 70 rs754798671 0.6666 None gnomAD-2.1.1 4.02E-06
31658 38 L/I 70 rs754798671 0.6666 None gnomAD-4.0.0 1.59127E-06
31659 39 C/Y 73 rs747276133 0.2753 None gnomAD-2.1.1 4.02E-06
31659 39 C/Y 73 rs747276133 0.2753 None gnomAD-3.1.2 6.57E-06
31659 39 C/Y 73 rs747276133 0.2753 None gnomAD-4.0.0 6.57367E-06
31660 40 E/G 102 None 1.0696 None gnomAD-4.0.0 1.59124E-06
31660 40 E/K 102 None 1.0696 None gnomAD-4.0.0 1.59126E-06
31661 41 K/E 115 rs1268995899 0.2994 None gnomAD-2.1.1 4.02E-06
31661 41 K/E 115 rs1268995899 0.2994 None gnomAD-4.0.0 1.36841E-06
31661 41 K/N 115 None 0.2994 None gnomAD-4.0.0 6.84208E-07
31662 42 V/D 121 rs1164809267 0.1624 None gnomAD-2.1.1 3.19E-05
31662 42 V/D 121 rs1164809267 0.1624 None gnomAD-3.1.2 6.58E-06
31662 42 V/D 121 rs1164809267 0.1624 None gnomAD-4.0.0 2.56243E-06
31662 42 V/L 121 None 0.1624 None gnomAD-4.0.0 1.20032E-06
31665 45 Q/H 125 None 0.7775 None gnomAD-4.0.0 3.18241E-06
31665 45 Q/P 125 None 0.7775 None gnomAD-4.0.0 6.842E-07
31665 45 Q/R 125 None 0.7775 None gnomAD-4.0.0 6.842E-07
31668 48 G/D 131 rs1196141227 0.3913 None gnomAD-2.1.1 4.02E-06
31668 48 G/D 131 rs1196141227 0.3913 None gnomAD-3.1.2 6.57E-06
31668 48 G/D 131 rs1196141227 0.3913 None gnomAD-4.0.0 6.5722E-06
31668 48 G/S 131 rs577136681 0.3913 None gnomAD-2.1.1 4.02E-06
31668 48 G/S 131 rs577136681 0.3913 None gnomAD-3.1.2 6.57E-06
31668 48 G/S 131 rs577136681 0.3913 None 1000 genomes 1.99681E-04
31668 48 G/S 131 rs577136681 0.3913 None gnomAD-4.0.0 2.47861E-06
31669 49 K/Q 134 None 0.8525 None gnomAD-4.0.0 1.20032E-06
31670 50 R/Q 135 rs750410616 0.5204 None gnomAD-2.1.1 2.41E-05
31670 50 R/Q 135 rs750410616 0.5204 None gnomAD-4.0.0 9.57883E-06
31671 51 A/P 136 rs1225295047 0.1027 None gnomAD-2.1.1 4.02E-06
31671 51 A/P 136 rs1225295047 0.1027 None gnomAD-4.0.0 1.5912E-06
31672 52 T/I 137 rs765777016 0.2354 None gnomAD-2.1.1 4.02E-06
31672 52 T/I 137 rs765777016 0.2354 None gnomAD-4.0.0 6.842E-07
31672 52 T/S 137 None 0.2354 None gnomAD-4.0.0 6.842E-07
31673 53 A/V 138 rs200920551 0.0989 None gnomAD-4.0.0 4.77373E-06
31674 54 V/A 139 rs754222897 0.2494 None gnomAD-2.1.1 1.21E-05
31674 54 V/A 139 rs754222897 0.2494 None gnomAD-3.1.2 6.57E-06
31674 54 V/A 139 rs754222897 0.2494 None gnomAD-4.0.0 8.67537E-06
31674 54 V/L 139 rs1559147307 0.2494 None gnomAD-4.0.0 1.20032E-06
31675 55 I/T 140 None 0.1115 None gnomAD-4.0.0 1.59123E-06
31676 56 K/T 141 None 0.4845 None gnomAD-4.0.0 1.59123E-06
31677 57 F/L 143 rs1559147244 0.7772 None gnomAD-4.0.0 2.40065E-06
31677 57 F/S 143 None 0.7772 None gnomAD-4.0.0 1.59125E-06
31678 58 C/R 144 rs2555818 0.1023 None gnomAD-4.0.0 1.59126E-06
31678 58 C/Y 144 None 0.1023 None gnomAD-4.0.0 1.20032E-06
31679 59 D/G 145 None 0.3002 None gnomAD-4.0.0 1.20032E-06
31679 59 D/N 145 rs116567963 0.3002 None gnomAD-2.1.1 1.50973E-03
31679 59 D/N 145 rs116567963 0.3002 None gnomAD-3.1.2 4.41519E-03
31679 59 D/N 145 rs116567963 0.3002 None 1000 genomes 3.99361E-03
31679 59 D/N 145 rs116567963 0.3002 None gnomAD-4.0.0 8.09861E-04
31680 60 R/G 146 rs760992930 0.3496 None gnomAD-2.1.1 4.02E-06
31680 60 R/G 146 rs760992930 0.3496 None gnomAD-4.0.0 1.59126E-06
31681 61 S/N 148 rs780124773 0.4298 None gnomAD-2.1.1 1.43E-05
31681 61 S/N 148 rs780124773 0.4298 None gnomAD-3.1.2 6.57E-06
31681 61 S/N 148 rs780124773 0.4298 None gnomAD-4.0.0 1.05345E-05
31682 62 D/E 149 rs1447931152 0.1711 None gnomAD-2.1.1 4.02E-06
31682 62 D/E 149 rs1447931152 0.1711 None gnomAD-3.1.2 6.57E-06
31682 62 D/E 149 rs1447931152 0.1711 None gnomAD-4.0.0 1.23938E-06
31682 62 D/G 149 None 0.1711 None gnomAD-4.0.0 1.59129E-06
31683 63 S/G 151 rs72648257 0.2686 None gnomAD-2.1.1 2.57578E-02
31683 63 S/G 151 rs72648257 0.2686 None gnomAD-3.1.2 2.02147E-02
31683 63 S/G 151 rs72648257 0.2686 None 1000 genomes 2.23642E-02
31683 63 S/G 151 rs72648257 0.2686 None gnomAD-4.0.0 2.28999E-02
31683 63 S/R 151 rs1697090717 0.2686 None gnomAD-4.0.0 6.8422E-07
31684 64 G/E 152 rs750325170 0.2222 None gnomAD-4.0.0 6.00161E-06
31684 64 G/R 152 rs1217644142 0.2222 None gnomAD-3.1.2 6.57E-06
31684 64 G/R 152 rs1217644142 0.2222 None gnomAD-4.0.0 6.57082E-06
31687 67 T/I 155 rs1471246687 0.2052 None gnomAD-2.1.1 4.02E-06
31687 67 T/I 155 rs1471246687 0.2052 None gnomAD-4.0.0 2.73694E-06
31688 68 L/S 156 rs794729538 0.1235 None gnomAD-4.0.0 2.40064E-06
31690 70 V/A 158 rs1224358849 0.1870 None gnomAD-3.1.2 6.57E-06
31690 70 V/A 158 rs1224358849 0.1870 None gnomAD-4.0.0 2.02981E-06
31690 70 V/L 158 rs727503543 0.1870 None gnomAD-4.0.0 6.84294E-07
31690 70 V/M 158 rs727503543 0.1870 None gnomAD-2.1.1 1.07E-05
31690 70 V/M 158 rs727503543 0.1870 None gnomAD-3.1.2 3.28E-05
31690 70 V/M 158 rs727503543 0.1870 None gnomAD-4.0.0 4.64806E-05
31692 72 N/K 161 rs769796501 0.1944 None gnomAD-2.1.1 4.03E-06
31692 72 N/K 161 rs769796501 0.1944 None gnomAD-3.1.2 6.57E-06
31692 72 N/K 161 rs769796501 0.1944 None gnomAD-4.0.0 2.47937E-06
31692 72 N/T 161 rs772560479 0.1944 None gnomAD-2.1.1 4.02E-06
31692 72 N/Y 161 None 0.1944 None gnomAD-4.0.0 1.59235E-06
31693 73 A/D 162 rs2288326 0.6922 None gnomAD-2.1.1 1.75095E-04
31693 73 A/D 162 rs2288326 0.6922 None gnomAD-3.1.2 1.38002E-04
31693 73 A/D 162 rs2288326 0.6922 None 1000 genomes 1.39776E-03
31693 73 A/D 162 rs2288326 0.6922 None gnomAD-4.0.0 1.95876E-04
31693 73 A/T 162 rs928573760 0.6922 None gnomAD-4.0.0 1.16351E-05
31694 74 S/R 163 rs776679937 0.7452 None gnomAD-2.1.1 4.03E-06
31695 75 G/R 164 rs376403373 0.3505 None gnomAD-2.1.1 5.36E-05
31695 75 G/R 164 rs376403373 0.3505 None gnomAD-3.1.2 1.05152E-04
31695 75 G/R 164 rs376403373 0.3505 None gnomAD-4.0.0 8.55507E-05
31696 76 T/A 165 rs1205411867 0.5294 None gnomAD-2.1.1 1.21E-05
31696 76 T/A 165 rs1205411867 0.5294 None gnomAD-3.1.2 1.31E-05
31696 76 T/A 165 rs1205411867 0.5294 None gnomAD-4.0.0 5.12847E-06
31696 76 T/S 165 None 0.5294 None gnomAD-4.0.0 1.20032E-06
31698 78 A/P 168 None 0.4152 None gnomAD-4.0.0 1.5943E-06
31699 79 V/M 169 rs751420355 0.5552 None gnomAD-2.1.1 3.23E-05
31699 79 V/M 169 rs751420355 0.5552 None gnomAD-3.1.2 3.29E-05
31699 79 V/M 169 rs751420355 0.5552 None gnomAD-4.0.0 2.66854E-05
31702 82 M/I 173 None 0.2664 None gnomAD-4.0.0 2.05814E-06
31702 82 M/L 173 rs370696758 0.2664 None gnomAD-2.1.1 4.05E-06
31702 82 M/L 173 rs370696758 0.2664 None gnomAD-3.1.2 6.57E-06
31702 82 M/L 173 rs370696758 0.2664 None gnomAD-4.0.0 1.86259E-06
31702 82 M/T 173 rs778808720 0.2664 None gnomAD-2.1.1 8.1E-06
31702 82 M/T 173 rs778808720 0.2664 None gnomAD-3.1.2 6.57E-06
31702 82 M/T 173 rs778808720 0.2664 None gnomAD-4.0.0 3.10482E-06
31702 82 M/V 173 rs370696758 0.2664 None gnomAD-2.1.1 4.05E-06
31702 82 M/V 173 rs370696758 0.2664 None gnomAD-4.0.0 4.11398E-06
31703 83 V/I 174 rs757333745 0.1310 None gnomAD-2.1.1 4.06E-06
31703 83 V/I 174 rs757333745 0.1310 None gnomAD-4.0.0 6.86056E-07
31703 83 V/L 174 rs757333745 0.1310 None gnomAD-4.0.0 4.11633E-06
31704 84 K/R 175 rs754379972 0.4698 None gnomAD-2.1.1 8.13E-06
31704 84 K/R 175 rs754379972 0.4698 None gnomAD-4.0.0 4.81439E-06
31705 85 V/A 177 None 0.1271 None gnomAD-4.0.0 1.60676E-06
31705 85 V/L 177 None 0.1271 None gnomAD-4.0.0 1.60598E-06