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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16751 1 T/A 1 None 0.3368 None gnomAD-4.0.0 1.60682E-06
16751 1 T/I 1 rs1440277025 0.3368 None gnomAD-4.0.0 2.06004E-06
16752 2 P/A 2 rs938347047 0.1221 None gnomAD-2.1.1 8.27E-06
16752 2 P/A 2 rs938347047 0.1221 None gnomAD-3.1.2 2.63E-05
16752 2 P/A 2 rs938347047 0.1221 None gnomAD-4.0.0 9.94775E-06
16752 2 P/R 2 rs2056443749 0.1221 None gnomAD-4.0.0 1.71639E-05
16753 3 G/A 3 None 0.2519 None gnomAD-4.0.0 6.86381E-07
16753 3 G/E 3 rs774047061 0.2519 None gnomAD-2.1.1 1.23E-05
16753 3 G/E 3 rs774047061 0.2519 None gnomAD-4.0.0 8.92296E-06
16755 5 P/R 5 rs770404461 0.1254 None gnomAD-2.1.1 4.07E-06
16755 5 P/R 5 rs770404461 0.1254 None gnomAD-4.0.0 1.59755E-06
16755 5 P/S 5 None 0.1254 None gnomAD-4.0.0 1.20032E-06
16757 7 A/P 7 None 0.3669 None gnomAD-4.0.0 6.85269E-07
16757 7 A/T 7 rs886042536 0.3669 None gnomAD-2.1.1 8.14E-06
16757 7 A/T 7 rs886042536 0.3669 None gnomAD-3.1.2 4.61E-05
16757 7 A/T 7 rs886042536 0.3669 None gnomAD-4.0.0 1.48963E-05
16758 8 L/P 9 None 0.2481 None gnomAD-4.0.0 3.60097E-06
16759 9 A/T 11 rs1374450831 0.3041 None gnomAD-2.1.1 4.06E-06
16759 9 A/T 11 rs1374450831 0.3041 None gnomAD-4.0.0 1.37026E-06
16760 10 V/M 12 rs772739731 0.3284 None gnomAD-2.1.1 4.06E-06
16760 10 V/M 12 rs772739731 0.3284 None gnomAD-4.0.0 1.59599E-06
16761 11 V/A 13 None 0.5631 None gnomAD-4.0.0 1.59561E-06
16761 11 V/F 13 None 0.5631 None gnomAD-4.0.0 1.59566E-06
16761 11 V/I 13 rs769565595 0.5631 None gnomAD-2.1.1 4.05E-06
16761 11 V/I 13 rs769565595 0.5631 None gnomAD-4.0.0 1.59566E-06
16762 12 D/N 14 None 0.4347 None gnomAD-4.0.0 1.20032E-06
16763 13 V/M 15 rs927015538 0.2439 None gnomAD-2.1.1 4.05E-06
16763 13 V/M 15 rs927015538 0.2439 None gnomAD-4.0.0 3.1909E-06
16764 14 T/A 16 None 0.1685 None gnomAD-4.0.0 1.59528E-06
16764 14 T/I 16 rs748125248 0.1685 None gnomAD-2.1.1 4.05E-06
16764 14 T/I 16 rs748125248 0.1685 None gnomAD-4.0.0 2.05492E-06
16764 14 T/S 16 None 0.1685 None gnomAD-4.0.0 3.19057E-06
16765 15 K/Q 17 rs1173417812 0.3740 None gnomAD-3.1.2 6.58E-06
16765 15 K/Q 17 rs1173417812 0.3740 None gnomAD-4.0.0 2.03025E-06
16766 16 R/G 18 None 0.7660 None gnomAD-4.0.0 6.84986E-07
16766 16 R/Q 18 rs747224934 0.7660 None gnomAD-2.1.1 4.31E-05
16766 16 R/Q 18 rs747224934 0.7660 None gnomAD-3.1.2 8.55E-05
16766 16 R/Q 18 rs747224934 0.7660 None gnomAD-4.0.0 3.72243E-05
16767 17 H/P 19 rs373892279 0.2309 None gnomAD-2.1.1 4.05E-06
16767 17 H/P 19 rs373892279 0.2309 None gnomAD-3.1.2 6.58E-06
16767 17 H/P 19 rs373892279 0.2309 None gnomAD-4.0.0 6.57981E-06
16767 17 H/Y 19 rs2056436094 0.2309 None gnomAD-4.0.0 3.60097E-06
16768 18 V/A 20 rs750493696 0.1051 None gnomAD-2.1.1 4.05E-06
16768 18 V/A 20 rs750493696 0.1051 None gnomAD-4.0.0 1.36993E-06
16768 18 V/I 20 rs563084506 0.1051 None gnomAD-2.1.1 4.05E-06
16768 18 V/I 20 rs563084506 0.1051 None gnomAD-3.1.2 6.58E-06
16768 18 V/I 20 rs563084506 0.1051 None 1000 genomes 1.99681E-04
16768 18 V/I 20 rs563084506 0.1051 None gnomAD-4.0.0 6.57454E-06
16769 19 D/E 21 rs757648293 0.2166 None gnomAD-2.1.1 4.05E-06
16769 19 D/E 21 rs757648293 0.2166 None gnomAD-4.0.0 2.05495E-06
16769 19 D/G 21 rs1233925811 0.2166 None gnomAD-2.1.1 4.05E-06
16769 19 D/N 21 None 0.2166 None gnomAD-4.0.0 4.10997E-06
16772 22 W/C 24 rs1433307898 0.1038 None gnomAD-2.1.1 3.19E-05
16773 23 E/K 25 rs879025295 0.4345 None gnomAD-4.0.0 7.97868E-06
16774 24 P/A 26 None 0.4109 None gnomAD-4.0.0 6.851E-07
16774 24 P/Q 26 None 0.4109 None gnomAD-4.0.0 4.11045E-06
16775 25 P/A 27 None 0.1416 None gnomAD-4.0.0 6.8507E-07
16775 25 P/L 27 rs1331633157 0.1416 None gnomAD-2.1.1 4.06E-06
16775 25 P/L 27 rs1331633157 0.1416 None gnomAD-4.0.0 3.19195E-06
16775 25 P/T 27 None 0.1416 None gnomAD-4.0.0 6.8507E-07
16779 29 G/D 31 rs1328033187 0.1153 None gnomAD-2.1.1 4.07E-06
16779 29 G/D 31 rs1328033187 0.1153 None gnomAD-4.0.0 1.59717E-06
16780 30 G/A 32 rs1389467681 0.3318 None gnomAD-2.1.1 4.08E-06
16780 30 G/A 32 rs1389467681 0.3318 None gnomAD-4.0.0 1.59825E-06
16781 31 R/K 33 rs764363428 0.3120 None gnomAD-2.1.1 4.08E-06
16781 31 R/K 33 rs764363428 0.3120 None gnomAD-4.0.0 1.59878E-06
16781 31 R/T 33 None 0.3120 None gnomAD-4.0.0 1.59878E-06
16782 32 P/A 34 rs761148844 0.6744 None gnomAD-4.0.0 6.1708E-06
16782 32 P/T 34 rs761148844 0.6744 None gnomAD-2.1.1 4.09E-06
16782 32 P/T 34 rs761148844 0.6744 None gnomAD-4.0.0 6.85644E-07
16783 33 I/T 35 rs950940404 0.1679 None gnomAD-2.1.1 8.21E-06
16783 33 I/T 35 rs950940404 0.1679 None gnomAD-3.1.2 1.32E-05
16783 33 I/T 35 rs950940404 0.1679 None gnomAD-4.0.0 6.43638E-06
16783 33 I/V 35 rs773959706 0.1679 None gnomAD-2.1.1 8.2E-06
16783 33 I/V 35 rs773959706 0.1679 None gnomAD-4.0.0 2.05779E-06
16784 34 Q/H 36 None 0.4662 None gnomAD-4.0.0 1.20034E-06
16784 34 Q/R 36 rs765976576 0.4662 None gnomAD-2.1.1 4.12E-06
16784 34 Q/R 36 rs765976576 0.4662 None gnomAD-4.0.0 1.60291E-06
16785 35 R/K 37 None 0.3709 None gnomAD-4.0.0 6.86944E-07
16785 35 R/T 37 rs1363740118 0.3709 None gnomAD-4.0.0 6.86944E-07
16786 36 Y/C 38 rs2056398658 0.0910 None gnomAD-4.0.0 4.79912E-06
16787 37 V/L 39 rs1419766789 0.1761 None gnomAD-3.1.2 6.58E-06
16787 37 V/L 39 rs1419766789 0.1761 None gnomAD-4.0.0 6.58033E-06
16788 38 I/T 40 rs397517599 0.0690 None gnomAD-2.1.1 7.89531E-04
16788 38 I/T 40 rs397517599 0.0690 None gnomAD-3.1.2 1.64487E-04
16788 38 I/T 40 rs397517599 0.0690 None 1000 genomes 3.99361E-04
16788 38 I/T 40 rs397517599 0.0690 None gnomAD-4.0.0 3.63688E-04
16789 39 E/K 41 rs762522321 0.1835 None gnomAD-2.1.1 4.06E-06
16789 39 E/K 41 rs762522321 0.1835 None gnomAD-3.1.2 6.58E-06
16789 39 E/K 41 rs762522321 0.1835 None gnomAD-4.0.0 3.85512E-06
16789 39 E/Q 41 rs762522321 0.1835 None gnomAD-2.1.1 4.06E-06
16789 39 E/Q 41 rs762522321 0.1835 None gnomAD-3.1.2 6.58E-06
16789 39 E/Q 41 rs762522321 0.1835 None gnomAD-4.0.0 6.57981E-06
16793 43 R/K 45 rs1446626288 0.5559 None gnomAD-2.1.1 4.06E-06
16793 43 R/K 45 rs1446626288 0.5559 None gnomAD-4.0.0 1.59566E-06
16795 45 G/V 62 None 0.2941 None gnomAD-4.0.0 1.20032E-06
16797 47 R/C 64 rs1015961035 0.8433 None gnomAD-4.0.0 6.16266E-06
16797 47 R/H 64 rs200835354 0.8433 None gnomAD-2.1.1 1.07601E-04
16797 47 R/H 64 rs200835354 0.8433 None gnomAD-3.1.2 1.31593E-04
16797 47 R/H 64 rs200835354 0.8433 None gnomAD-4.0.0 1.01712E-04
16798 48 W/G 65 None 0.3234 None gnomAD-4.0.0 4.78199E-06
16799 49 V/G 66 rs1222977459 0.5377 None gnomAD-2.1.1 6.38E-05
16799 49 V/G 66 rs1222977459 0.5377 None gnomAD-3.1.2 1.32E-05
16799 49 V/G 66 rs1222977459 0.5377 None gnomAD-4.0.0 3.04531E-06
16800 50 K/N 67 rs794729239 0.6317 None gnomAD-3.1.2 6.58E-06
16800 50 K/N 67 rs794729239 0.6317 None gnomAD-4.0.0 4.34089E-06
16800 50 K/T 67 rs959185764 0.6317 None gnomAD-2.1.1 1.43E-05
16800 50 K/T 67 rs959185764 0.6317 None gnomAD-3.1.2 1.97E-05
16800 50 K/T 67 rs959185764 0.6317 None gnomAD-4.0.0 1.42628E-05
16801 51 A/G 68 rs2056391754 0.2691 None gnomAD-3.1.2 6.58E-06
16801 51 A/G 68 rs2056391754 0.2691 None gnomAD-4.0.0 2.03024E-06
16801 51 A/P 68 None 0.2691 None gnomAD-4.0.0 1.59372E-06
16803 53 K/N 70 None 0.4254 None gnomAD-4.0.0 6.84645E-07
16804 54 T/S 72 None 0.1434 None gnomAD-4.0.0 1.59361E-06
16806 56 G/E 77 rs565897140 0.2604 None gnomAD-2.1.1 4.84E-05
16806 56 G/E 77 rs565897140 0.2604 None gnomAD-3.1.2 6.58E-06
16806 56 G/E 77 rs565897140 0.2604 None 1000 genomes 1.99681E-04
16806 56 G/E 77 rs565897140 0.2604 None gnomAD-4.0.0 9.92055E-06
16806 56 G/V 77 None 0.2604 None gnomAD-4.0.0 6.84599E-07
16807 57 P/T 78 rs1294894885 0.5336 None gnomAD-2.1.1 4.04E-06
16807 57 P/T 78 rs1294894885 0.5336 None gnomAD-4.0.0 1.59335E-06
16808 58 D/N 88 None 0.6241 None gnomAD-4.0.0 1.20032E-06
16809 59 C/R 89 None 0.1109 None gnomAD-4.0.0 1.20032E-06
16813 63 V/I 93 None 0.1112 None gnomAD-4.0.0 1.36912E-06
16814 64 T/I 94 None 0.5821 None gnomAD-4.0.0 6.84561E-07
16817 67 I/F 98 rs2056387870 0.7024 None gnomAD-4.0.0 3.18618E-06
16818 68 E/K 99 rs397517600 0.5127 None gnomAD-2.1.1 2.57904E-04
16818 68 E/K 99 rs397517600 0.5127 None gnomAD-3.1.2 1.24993E-04
16818 68 E/K 99 rs397517600 0.5127 None gnomAD-4.0.0 1.22768E-04
16820 70 T/K 102 None 0.2672 None gnomAD-4.0.0 1.20032E-06
16821 71 E/G 103 rs781091773 0.3638 None gnomAD-2.1.1 8.07E-06
16821 71 E/G 103 rs781091773 0.3638 None gnomAD-3.1.2 6.58E-06
16821 71 E/G 103 rs781091773 0.3638 None gnomAD-4.0.0 1.36402E-05
16823 73 Q/K 105 None 0.2052 None gnomAD-4.0.0 1.20032E-06
16824 74 F/L 106 rs1460335685 0.1335 None gnomAD-2.1.1 8.07E-06
16824 74 F/L 106 rs1460335685 0.1335 None gnomAD-3.1.2 1.32E-05
16824 74 F/L 106 rs1460335685 0.1335 None gnomAD-4.0.0 1.20032E-06
16826 76 V/L 108 None 0.0846 None gnomAD-4.0.0 4.10712E-06
16827 77 R/Q 109 rs138896856 0.2334 None gnomAD-2.1.1 1.57554E-04
16827 77 R/Q 109 rs138896856 0.2334 None gnomAD-3.1.2 1.51336E-04
16827 77 R/Q 109 rs138896856 0.2334 None 1000 genomes 1.99681E-04
16827 77 R/Q 109 rs138896856 0.2334 None gnomAD-4.0.0 1.07257E-04
16827 77 R/W 109 rs727503620 0.2334 None gnomAD-2.1.1 1.43E-05
16827 77 R/W 109 rs727503620 0.2334 None gnomAD-3.1.2 2.63E-05
16827 77 R/W 109 rs727503620 0.2334 None gnomAD-4.0.0 1.30211E-05
16829 79 E/D 111 rs777736610 0.2188 None gnomAD-2.1.1 4.03E-06
16832 82 A/T 114 rs1465354124 0.3071 None gnomAD-2.1.1 4.03E-06
16832 82 A/T 114 rs1465354124 0.3071 None gnomAD-4.0.0 1.59316E-06
16832 82 A/V 114 None 0.3071 None gnomAD-4.0.0 1.59318E-06
16834 84 V/A 116 None 0.4049 None gnomAD-4.0.0 1.59328E-06
16834 84 V/I 116 None 0.4049 None gnomAD-4.0.0 4.80129E-06
16835 85 G/A 118 None 0.1416 None gnomAD-4.0.0 1.5934E-06
16835 85 G/S 118 None 0.1416 None gnomAD-4.0.0 1.20032E-06
16838 88 S/G 121 rs781528949 0.1352 None gnomAD-2.1.1 4.03E-06
16838 88 S/G 121 rs781528949 0.1352 None gnomAD-4.0.0 3.18678E-06
16838 88 S/N 121 rs755391418 0.1352 None gnomAD-4.0.0 6.84615E-07
16838 88 S/T 121 rs755391418 0.1352 None gnomAD-2.1.1 8.07E-06
16838 88 S/T 121 rs755391418 0.1352 None gnomAD-3.1.2 6.58E-06
16838 88 S/T 121 rs755391418 0.1352 None gnomAD-4.0.0 4.34051E-06
16839 89 E/V 122 None 0.8476 None gnomAD-4.0.0 1.20032E-06
16840 90 P/A 123 None 0.4015 None gnomAD-4.0.0 6.84674E-07
16840 90 P/L 123 None 0.4015 None gnomAD-4.0.0 1.20032E-06
16841 91 T/I 124 None 0.1782 None gnomAD-4.0.0 1.59379E-06
16841 91 T/R 124 None 0.1782 None gnomAD-4.0.0 1.59379E-06
16842 92 E/K 125 None 0.9308 None gnomAD-4.0.0 1.59391E-06
16843 93 I/N 126 None 0.4159 None gnomAD-4.0.0 1.20032E-06
16844 94 L/P 127 rs764983586 0.2113 None gnomAD-2.1.1 2.83E-05
16844 94 L/P 127 rs764983586 0.2113 None gnomAD-3.1.2 1.97E-05
16844 94 L/P 127 rs764983586 0.2113 None gnomAD-4.0.0 1.73669E-05
16845 95 S/P 129 rs761406700 0.4181 None gnomAD-2.1.1 4.04E-06
16845 95 S/P 129 rs761406700 0.4181 None gnomAD-4.0.0 1.59496E-06
16846 96 I/L 130 rs1432294105 0.0962 None gnomAD-4.0.0 6.84983E-07
16846 96 I/S 130 rs753344121 0.0962 None gnomAD-2.1.1 1.62E-05
16846 96 I/S 130 rs753344121 0.0962 None gnomAD-3.1.2 6.58E-06
16846 96 I/S 130 rs753344121 0.0962 None gnomAD-4.0.0 3.72223E-06
16846 96 I/T 130 rs753344121 0.0962 None gnomAD-2.1.1 3.19E-05
16846 96 I/T 130 rs753344121 0.0962 None gnomAD-3.1.2 1.97E-05
16846 96 I/T 130 rs753344121 0.0962 None gnomAD-4.0.0 7.44446E-06
16846 96 I/V 130 rs1432294105 0.0962 None gnomAD-2.1.1 4.05E-06
16846 96 I/V 130 rs1432294105 0.0962 None gnomAD-3.1.2 1.32E-05
16846 96 I/V 130 rs1432294105 0.0962 None gnomAD-4.0.0 2.48153E-06
16847 97 E/G 131 rs760623859 0.5679 None gnomAD-2.1.1 8.09E-06
16847 97 E/G 131 rs760623859 0.5679 None gnomAD-4.0.0 4.78643E-06