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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16751 1 T/A 1 None 0.2939 None gnomAD-4.0.0 1.60682E-06
16751 1 T/I 1 rs1440277025 0.2939 None gnomAD-4.0.0 2.06004E-06
16752 2 P/A 2 rs938347047 0.0993 None gnomAD-2.1.1 8.27E-06
16752 2 P/A 2 rs938347047 0.0993 None gnomAD-3.1.2 2.63E-05
16752 2 P/A 2 rs938347047 0.0993 None gnomAD-4.0.0 9.94775E-06
16752 2 P/R 2 rs2056443749 0.0993 None gnomAD-4.0.0 1.71639E-05
16753 3 G/A 3 None 0.1969 None gnomAD-4.0.0 6.86381E-07
16753 3 G/E 3 rs774047061 0.1969 None gnomAD-2.1.1 1.23E-05
16753 3 G/E 3 rs774047061 0.1969 None gnomAD-4.0.0 8.92296E-06
16755 5 P/R 5 rs770404461 0.1021 None gnomAD-2.1.1 4.07E-06
16755 5 P/R 5 rs770404461 0.1021 None gnomAD-4.0.0 1.59755E-06
16755 5 P/S 5 None 0.1021 None gnomAD-4.0.0 1.20032E-06
16757 7 A/P 7 None 0.3680 None gnomAD-4.0.0 6.85269E-07
16757 7 A/T 7 rs886042536 0.3680 None gnomAD-2.1.1 8.14E-06
16757 7 A/T 7 rs886042536 0.3680 None gnomAD-3.1.2 4.61E-05
16757 7 A/T 7 rs886042536 0.3680 None gnomAD-4.0.0 1.48963E-05
16758 8 L/P 9 None 0.2326 None gnomAD-4.0.0 3.60097E-06
16759 9 A/T 11 rs1374450831 0.3294 None gnomAD-2.1.1 4.06E-06
16759 9 A/T 11 rs1374450831 0.3294 None gnomAD-4.0.0 1.37026E-06
16760 10 V/M 12 rs772739731 0.3207 None gnomAD-2.1.1 4.06E-06
16760 10 V/M 12 rs772739731 0.3207 None gnomAD-4.0.0 1.59599E-06
16761 11 V/A 13 None 0.5414 None gnomAD-4.0.0 1.59561E-06
16761 11 V/F 13 None 0.5414 None gnomAD-4.0.0 1.59566E-06
16761 11 V/I 13 rs769565595 0.5414 None gnomAD-2.1.1 4.05E-06
16761 11 V/I 13 rs769565595 0.5414 None gnomAD-4.0.0 1.59566E-06
16762 12 D/N 14 None 0.4313 None gnomAD-4.0.0 1.20032E-06
16763 13 V/M 15 rs927015538 0.2432 None gnomAD-2.1.1 4.05E-06
16763 13 V/M 15 rs927015538 0.2432 None gnomAD-4.0.0 3.1909E-06
16764 14 T/A 16 None 0.1604 None gnomAD-4.0.0 1.59528E-06
16764 14 T/I 16 rs748125248 0.1604 None gnomAD-2.1.1 4.05E-06
16764 14 T/I 16 rs748125248 0.1604 None gnomAD-4.0.0 2.05492E-06
16764 14 T/S 16 None 0.1604 None gnomAD-4.0.0 3.19057E-06
16765 15 K/Q 17 rs1173417812 0.3217 None gnomAD-3.1.2 6.58E-06
16765 15 K/Q 17 rs1173417812 0.3217 None gnomAD-4.0.0 2.03025E-06
16766 16 R/G 18 None 0.6928 None gnomAD-4.0.0 6.84986E-07
16766 16 R/Q 18 rs747224934 0.6928 None gnomAD-2.1.1 4.31E-05
16766 16 R/Q 18 rs747224934 0.6928 None gnomAD-3.1.2 8.55E-05
16766 16 R/Q 18 rs747224934 0.6928 None gnomAD-4.0.0 3.72243E-05
16767 17 H/P 19 rs373892279 0.2176 None gnomAD-2.1.1 4.05E-06
16767 17 H/P 19 rs373892279 0.2176 None gnomAD-3.1.2 6.58E-06
16767 17 H/P 19 rs373892279 0.2176 None gnomAD-4.0.0 6.57981E-06
16767 17 H/Y 19 rs2056436094 0.2176 None gnomAD-4.0.0 3.60097E-06
16768 18 V/A 20 rs750493696 0.0895 None gnomAD-2.1.1 4.05E-06
16768 18 V/A 20 rs750493696 0.0895 None gnomAD-4.0.0 1.36993E-06
16768 18 V/I 20 rs563084506 0.0895 None gnomAD-2.1.1 4.05E-06
16768 18 V/I 20 rs563084506 0.0895 None gnomAD-3.1.2 6.58E-06
16768 18 V/I 20 rs563084506 0.0895 None 1000 genomes 1.99681E-04
16768 18 V/I 20 rs563084506 0.0895 None gnomAD-4.0.0 6.57454E-06
16769 19 D/E 21 rs757648293 0.1902 None gnomAD-2.1.1 4.05E-06
16769 19 D/E 21 rs757648293 0.1902 None gnomAD-4.0.0 2.05495E-06
16769 19 D/G 21 rs1233925811 0.1902 None gnomAD-2.1.1 4.05E-06
16769 19 D/N 21 None 0.1902 None gnomAD-4.0.0 4.10997E-06
16772 22 W/C 24 rs1433307898 0.0848 None gnomAD-2.1.1 3.19E-05
16773 23 E/K 25 rs879025295 0.3624 None gnomAD-4.0.0 7.97868E-06
16774 24 P/A 26 None 0.3644 None gnomAD-4.0.0 6.851E-07
16774 24 P/Q 26 None 0.3644 None gnomAD-4.0.0 4.11045E-06
16775 25 P/A 27 None 0.1477 None gnomAD-4.0.0 6.8507E-07
16775 25 P/L 27 rs1331633157 0.1477 None gnomAD-2.1.1 4.06E-06
16775 25 P/L 27 rs1331633157 0.1477 None gnomAD-4.0.0 3.19195E-06
16775 25 P/T 27 None 0.1477 None gnomAD-4.0.0 6.8507E-07
16779 29 G/D 31 rs1328033187 0.1181 None gnomAD-2.1.1 4.07E-06
16779 29 G/D 31 rs1328033187 0.1181 None gnomAD-4.0.0 1.59717E-06
16780 30 G/A 32 rs1389467681 0.3969 None gnomAD-2.1.1 4.08E-06
16780 30 G/A 32 rs1389467681 0.3969 None gnomAD-4.0.0 1.59825E-06
16781 31 R/K 33 rs764363428 0.4335 None gnomAD-2.1.1 4.08E-06
16781 31 R/K 33 rs764363428 0.4335 None gnomAD-4.0.0 1.59878E-06
16781 31 R/T 33 None 0.4335 None gnomAD-4.0.0 1.59878E-06
16782 32 P/A 34 rs761148844 0.6639 None gnomAD-4.0.0 6.1708E-06
16782 32 P/T 34 rs761148844 0.6639 None gnomAD-2.1.1 4.09E-06
16782 32 P/T 34 rs761148844 0.6639 None gnomAD-4.0.0 6.85644E-07
16783 33 I/T 35 rs950940404 0.1558 None gnomAD-2.1.1 8.21E-06
16783 33 I/T 35 rs950940404 0.1558 None gnomAD-3.1.2 1.32E-05
16783 33 I/T 35 rs950940404 0.1558 None gnomAD-4.0.0 6.43638E-06
16783 33 I/V 35 rs773959706 0.1558 None gnomAD-2.1.1 8.2E-06
16783 33 I/V 35 rs773959706 0.1558 None gnomAD-4.0.0 2.05779E-06
16784 34 Q/H 36 None 0.4377 None gnomAD-4.0.0 1.20034E-06
16784 34 Q/R 36 rs765976576 0.4377 None gnomAD-2.1.1 4.12E-06
16784 34 Q/R 36 rs765976576 0.4377 None gnomAD-4.0.0 1.60291E-06
16785 35 R/K 37 None 0.3556 None gnomAD-4.0.0 6.86944E-07
16785 35 R/T 37 rs1363740118 0.3556 None gnomAD-4.0.0 6.86944E-07
16786 36 Y/C 38 rs2056398658 0.0736 None gnomAD-4.0.0 4.79912E-06
16787 37 V/L 39 rs1419766789 0.1618 None gnomAD-3.1.2 6.58E-06
16787 37 V/L 39 rs1419766789 0.1618 None gnomAD-4.0.0 6.58033E-06
16788 38 I/T 40 rs397517599 0.0522 None gnomAD-2.1.1 7.89531E-04
16788 38 I/T 40 rs397517599 0.0522 None gnomAD-3.1.2 1.64487E-04
16788 38 I/T 40 rs397517599 0.0522 None 1000 genomes 3.99361E-04
16788 38 I/T 40 rs397517599 0.0522 None gnomAD-4.0.0 3.63688E-04
16789 39 E/K 41 rs762522321 0.1526 None gnomAD-2.1.1 4.06E-06
16789 39 E/K 41 rs762522321 0.1526 None gnomAD-3.1.2 6.58E-06
16789 39 E/K 41 rs762522321 0.1526 None gnomAD-4.0.0 3.85512E-06
16789 39 E/Q 41 rs762522321 0.1526 None gnomAD-2.1.1 4.06E-06
16789 39 E/Q 41 rs762522321 0.1526 None gnomAD-3.1.2 6.58E-06
16789 39 E/Q 41 rs762522321 0.1526 None gnomAD-4.0.0 6.57981E-06
16793 43 R/K 45 rs1446626288 0.5332 None gnomAD-2.1.1 4.06E-06
16793 43 R/K 45 rs1446626288 0.5332 None gnomAD-4.0.0 1.59566E-06
16795 45 G/V 62 None 0.2695 None gnomAD-4.0.0 1.20032E-06
16797 47 R/C 64 rs1015961035 0.8330 None gnomAD-4.0.0 6.16266E-06
16797 47 R/H 64 rs200835354 0.8330 None gnomAD-2.1.1 1.07601E-04
16797 47 R/H 64 rs200835354 0.8330 None gnomAD-3.1.2 1.31593E-04
16797 47 R/H 64 rs200835354 0.8330 None gnomAD-4.0.0 1.01712E-04
16798 48 W/G 65 None 0.2742 None gnomAD-4.0.0 4.78199E-06
16799 49 V/G 66 rs1222977459 0.5002 None gnomAD-2.1.1 6.38E-05
16799 49 V/G 66 rs1222977459 0.5002 None gnomAD-3.1.2 1.32E-05
16799 49 V/G 66 rs1222977459 0.5002 None gnomAD-4.0.0 3.04531E-06
16800 50 K/N 67 rs794729239 0.7232 None gnomAD-3.1.2 6.58E-06
16800 50 K/N 67 rs794729239 0.7232 None gnomAD-4.0.0 4.34089E-06
16800 50 K/T 67 rs959185764 0.7232 None gnomAD-2.1.1 1.43E-05
16800 50 K/T 67 rs959185764 0.7232 None gnomAD-3.1.2 1.97E-05
16800 50 K/T 67 rs959185764 0.7232 None gnomAD-4.0.0 1.42628E-05
16801 51 A/G 68 rs2056391754 0.2016 None gnomAD-3.1.2 6.58E-06
16801 51 A/G 68 rs2056391754 0.2016 None gnomAD-4.0.0 2.03024E-06
16801 51 A/P 68 None 0.2016 None gnomAD-4.0.0 1.59372E-06
16803 53 K/N 70 None 0.3775 None gnomAD-4.0.0 6.84645E-07
16804 54 T/S 72 None 0.1194 None gnomAD-4.0.0 1.59361E-06
16806 56 G/E 77 rs565897140 0.2385 None gnomAD-2.1.1 4.84E-05
16806 56 G/E 77 rs565897140 0.2385 None gnomAD-3.1.2 6.58E-06
16806 56 G/E 77 rs565897140 0.2385 None 1000 genomes 1.99681E-04
16806 56 G/E 77 rs565897140 0.2385 None gnomAD-4.0.0 9.92055E-06
16806 56 G/V 77 None 0.2385 None gnomAD-4.0.0 6.84599E-07
16807 57 P/T 78 rs1294894885 0.4829 None gnomAD-2.1.1 4.04E-06
16807 57 P/T 78 rs1294894885 0.4829 None gnomAD-4.0.0 1.59335E-06
16808 58 D/N 88 None 0.5765 None gnomAD-4.0.0 1.20032E-06
16809 59 C/R 89 None 0.0877 None gnomAD-4.0.0 1.20032E-06
16813 63 V/I 93 None 0.0931 None gnomAD-4.0.0 1.36912E-06
16814 64 T/I 94 None 0.5394 None gnomAD-4.0.0 6.84561E-07
16817 67 I/F 98 rs2056387870 0.6710 None gnomAD-4.0.0 3.18618E-06
16818 68 E/K 99 rs397517600 0.5055 None gnomAD-2.1.1 2.57904E-04
16818 68 E/K 99 rs397517600 0.5055 None gnomAD-3.1.2 1.24993E-04
16818 68 E/K 99 rs397517600 0.5055 None gnomAD-4.0.0 1.22768E-04
16820 70 T/K 102 None 0.2486 None gnomAD-4.0.0 1.20032E-06
16821 71 E/G 103 rs781091773 0.3400 None gnomAD-2.1.1 8.07E-06
16821 71 E/G 103 rs781091773 0.3400 None gnomAD-3.1.2 6.58E-06
16821 71 E/G 103 rs781091773 0.3400 None gnomAD-4.0.0 1.36402E-05
16823 73 Q/K 105 None 0.1699 None gnomAD-4.0.0 1.20032E-06
16824 74 F/L 106 rs1460335685 0.1136 None gnomAD-2.1.1 8.07E-06
16824 74 F/L 106 rs1460335685 0.1136 None gnomAD-3.1.2 1.32E-05
16824 74 F/L 106 rs1460335685 0.1136 None gnomAD-4.0.0 1.20032E-06
16826 76 V/L 108 None 0.0709 None gnomAD-4.0.0 4.10712E-06
16827 77 R/Q 109 rs138896856 0.1987 None gnomAD-2.1.1 1.57554E-04
16827 77 R/Q 109 rs138896856 0.1987 None gnomAD-3.1.2 1.51336E-04
16827 77 R/Q 109 rs138896856 0.1987 None 1000 genomes 1.99681E-04
16827 77 R/Q 109 rs138896856 0.1987 None gnomAD-4.0.0 1.07257E-04
16827 77 R/W 109 rs727503620 0.1987 None gnomAD-2.1.1 1.43E-05
16827 77 R/W 109 rs727503620 0.1987 None gnomAD-3.1.2 2.63E-05
16827 77 R/W 109 rs727503620 0.1987 None gnomAD-4.0.0 1.30211E-05
16829 79 E/D 111 rs777736610 0.1913 None gnomAD-2.1.1 4.03E-06
16832 82 A/T 114 rs1465354124 0.2672 None gnomAD-2.1.1 4.03E-06
16832 82 A/T 114 rs1465354124 0.2672 None gnomAD-4.0.0 1.59316E-06
16832 82 A/V 114 None 0.2672 None gnomAD-4.0.0 1.59318E-06
16834 84 V/A 116 None 0.3595 None gnomAD-4.0.0 1.59328E-06
16834 84 V/I 116 None 0.3595 None gnomAD-4.0.0 4.80129E-06
16835 85 G/A 118 None 0.1074 None gnomAD-4.0.0 1.5934E-06
16835 85 G/S 118 None 0.1074 None gnomAD-4.0.0 1.20032E-06
16838 88 S/G 121 rs781528949 0.1149 None gnomAD-2.1.1 4.03E-06
16838 88 S/G 121 rs781528949 0.1149 None gnomAD-4.0.0 3.18678E-06
16838 88 S/N 121 rs755391418 0.1149 None gnomAD-4.0.0 6.84615E-07
16838 88 S/T 121 rs755391418 0.1149 None gnomAD-2.1.1 8.07E-06
16838 88 S/T 121 rs755391418 0.1149 None gnomAD-3.1.2 6.58E-06
16838 88 S/T 121 rs755391418 0.1149 None gnomAD-4.0.0 4.34051E-06
16839 89 E/V 122 None 0.7460 None gnomAD-4.0.0 1.20032E-06
16840 90 P/A 123 None 0.3321 None gnomAD-4.0.0 6.84674E-07
16840 90 P/L 123 None 0.3321 None gnomAD-4.0.0 1.20032E-06
16841 91 T/I 124 None 0.1662 None gnomAD-4.0.0 1.59379E-06
16841 91 T/R 124 None 0.1662 None gnomAD-4.0.0 1.59379E-06
16842 92 E/K 125 None 0.9377 None gnomAD-4.0.0 1.59391E-06
16843 93 I/N 126 None 0.4518 None gnomAD-4.0.0 1.20032E-06
16844 94 L/P 127 rs764983586 0.2256 None gnomAD-2.1.1 2.83E-05
16844 94 L/P 127 rs764983586 0.2256 None gnomAD-3.1.2 1.97E-05
16844 94 L/P 127 rs764983586 0.2256 None gnomAD-4.0.0 1.73669E-05
16845 95 S/P 129 rs761406700 0.4756 None gnomAD-2.1.1 4.04E-06
16845 95 S/P 129 rs761406700 0.4756 None gnomAD-4.0.0 1.59496E-06
16846 96 I/L 130 rs1432294105 0.0880 None gnomAD-4.0.0 6.84983E-07
16846 96 I/S 130 rs753344121 0.0880 None gnomAD-2.1.1 1.62E-05
16846 96 I/S 130 rs753344121 0.0880 None gnomAD-3.1.2 6.58E-06
16846 96 I/S 130 rs753344121 0.0880 None gnomAD-4.0.0 3.72223E-06
16846 96 I/T 130 rs753344121 0.0880 None gnomAD-2.1.1 3.19E-05
16846 96 I/T 130 rs753344121 0.0880 None gnomAD-3.1.2 1.97E-05
16846 96 I/T 130 rs753344121 0.0880 None gnomAD-4.0.0 7.44446E-06
16846 96 I/V 130 rs1432294105 0.0880 None gnomAD-2.1.1 4.05E-06
16846 96 I/V 130 rs1432294105 0.0880 None gnomAD-3.1.2 1.32E-05
16846 96 I/V 130 rs1432294105 0.0880 None gnomAD-4.0.0 2.48153E-06
16847 97 E/G 131 rs760623859 0.5722 None gnomAD-2.1.1 8.09E-06
16847 97 E/G 131 rs760623859 0.5722 None gnomAD-4.0.0 4.78643E-06