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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17968 1 R/C 1 rs776785175 0.4795 None gnomAD-2.1.1 2.22E-05
17968 1 R/C 1 rs776785175 0.4795 None gnomAD-4.0.0 9.05292E-06
17968 1 R/H 1 rs200100660 0.4795 None gnomAD-2.1.1 8.76E-05
17968 1 R/H 1 rs200100660 0.4795 None gnomAD-3.1.2 9.22E-05
17968 1 R/H 1 rs200100660 0.4795 None gnomAD-4.0.0 1.1059E-04
17968 1 R/S 1 rs776785175 0.4795 None gnomAD-3.1.2 6.59E-06
17968 1 R/S 1 rs776785175 0.4795 None gnomAD-4.0.0 6.58033E-06
17969 2 L/P 2 rs780364455 0.3740 None gnomAD-2.1.1 4.34E-06
17969 2 L/P 2 rs780364455 0.3740 None gnomAD-4.0.0 1.64259E-06
17970 3 S/I 3 None 0.8442 None gnomAD-4.0.0 6.9269E-07
17970 3 S/N 3 rs368532455 0.8442 None gnomAD-2.1.1 4.31E-06
17970 3 S/N 3 rs368532455 0.8442 None gnomAD-3.1.2 6.58E-06
17970 3 S/N 3 rs368532455 0.8442 None gnomAD-4.0.0 4.38723E-06
17972 5 R/Q 5 rs377169251 1.1251 None gnomAD-2.1.1 1.27E-05
17972 5 R/Q 5 rs377169251 1.1251 None gnomAD-3.1.2 1.32E-05
17972 5 R/Q 5 rs377169251 1.1251 None gnomAD-4.0.0 1.06232E-05
17973 6 G/A 8 rs2054500597 0.4658 None gnomAD-3.1.2 6.58E-06
17973 6 G/A 8 rs2054500597 0.4658 None gnomAD-4.0.0 2.03049E-06
17974 7 D/H 9 None 0.8095 None gnomAD-4.0.0 6.88925E-07
17975 8 T/A 11 None 0.2856 None gnomAD-4.0.0 6.87803E-07
17975 8 T/I 11 None 0.2856 None gnomAD-4.0.0 6.87773E-07
17975 8 T/S 11 rs727503605 0.2856 None gnomAD-2.1.1 4.58E-05
17975 8 T/S 11 rs727503605 0.2856 None gnomAD-4.0.0 1.92576E-05
17976 9 I/N 13 rs1293562368 0.1606 None gnomAD-3.1.2 6.58E-06
17976 9 I/N 13 rs1293562368 0.1606 None gnomAD-4.0.0 6.58189E-06
17976 9 I/T 13 rs1293562368 0.1606 None gnomAD-3.1.2 6.58E-06
17976 9 I/T 13 rs1293562368 0.1606 None gnomAD-4.0.0 6.58189E-06
17976 9 I/V 13 rs371424482 0.1606 None gnomAD-2.1.1 3.19E-05
17976 9 I/V 13 rs371424482 0.1606 None gnomAD-3.1.2 1.98E-05
17976 9 I/V 13 rs371424482 0.1606 None gnomAD-4.0.0 8.12176E-06
17977 10 K/N 14 None 0.3771 None gnomAD-4.0.0 1.60552E-06
17977 10 K/Q 14 None 0.3771 None gnomAD-4.0.0 6.86935E-07
17979 12 K/R 18 None 0.3325 None gnomAD-4.0.0 1.60204E-06
17981 14 G/E 24 None 0.3203 None gnomAD-4.0.0 1.59961E-06
17982 15 E/K 25 rs1270287250 0.4232 None gnomAD-2.1.1 3.19E-05
17982 15 E/K 25 rs1270287250 0.4232 None gnomAD-3.1.2 6.59E-06
17982 15 E/K 25 rs1270287250 0.4232 None gnomAD-4.0.0 3.04585E-06
17983 16 P/A 26 None 0.4340 None gnomAD-4.0.0 6.85439E-07
17985 18 H/Q 29 rs374042312 0.4987 None gnomAD-2.1.1 3.19E-05
17985 18 H/Q 29 rs374042312 0.4987 None gnomAD-3.1.2 6.58E-06
17985 18 H/Q 29 rs374042312 0.4987 None gnomAD-4.0.0 3.85367E-06
17986 19 I/T 30 rs1200347706 0.1087 None gnomAD-2.1.1 3.19E-05
17986 19 I/T 30 rs1200347706 0.1087 None gnomAD-3.1.2 6.59E-06
17986 19 I/T 30 rs1200347706 0.1087 None gnomAD-4.0.0 6.58597E-06
17986 19 I/V 30 rs1293207173 0.1087 None gnomAD-3.1.2 6.58E-06
17986 19 I/V 30 rs1293207173 0.1087 None gnomAD-4.0.0 6.58345E-06
17987 20 P/T 31 rs1315555738 0.2490 None gnomAD-2.1.1 4.07E-06
17989 22 D/N 34 rs1060500481 0.4649 None gnomAD-4.0.0 1.59521E-06
17989 22 D/Y 34 None 0.4649 None gnomAD-4.0.0 1.59521E-06
17990 23 V/A 35 None 0.2318 None gnomAD-4.0.0 3.60103E-06
17991 24 T/I 38 None 0.6608 None gnomAD-4.0.0 2.73955E-06
17995 28 M/I 43 None 0.2590 None gnomAD-4.0.0 1.59456E-06
17995 28 M/K 43 rs1266231398 0.2590 None gnomAD-2.1.1 3.19E-05
17995 28 M/K 43 rs1266231398 0.2590 None gnomAD-3.1.2 6.58E-06
17995 28 M/K 43 rs1266231398 0.2590 None gnomAD-4.0.0 6.58432E-06
17995 28 M/V 43 rs754959032 0.2590 None gnomAD-2.1.1 4.05E-06
17995 28 M/V 43 rs754959032 0.2590 None gnomAD-4.0.0 3.18919E-06
17997 30 K/N 45 None 0.5929 None gnomAD-4.0.0 4.78292E-06
17998 31 I/M 46 None 0.2443 None gnomAD-4.0.0 1.59424E-06
17998 31 I/T 46 rs781376870 0.2443 None gnomAD-2.1.1 4.05E-06
17998 31 I/T 46 rs781376870 0.2443 None gnomAD-3.1.2 6.59E-06
17998 31 I/T 46 rs781376870 0.2443 None gnomAD-4.0.0 8.06347E-06
18000 33 W/C 48 rs72646813 0.1858 None gnomAD-2.1.1 1.62E-05
18000 33 W/C 48 rs72646813 0.1858 None gnomAD-4.0.0 7.97107E-06
18001 34 S/T 49 None 0.1523 None gnomAD-4.0.0 1.59413E-06
18002 35 K/R 50 None 0.1842 None gnomAD-4.0.0 1.59397E-06
18007 40 I/M 58 rs1439129129 0.2307 None gnomAD-2.1.1 7.18E-06
18007 40 I/M 58 rs1439129129 0.2307 None gnomAD-3.1.2 6.58E-06
18007 40 I/M 58 rs1439129129 0.2307 None gnomAD-4.0.0 3.10103E-06
18007 40 I/T 58 None 0.2307 None gnomAD-4.0.0 1.20032E-06
18007 40 I/V 58 rs1260982977 0.2307 None gnomAD-3.1.2 6.58E-06
18007 40 I/V 58 rs1260982977 0.2307 None gnomAD-4.0.0 3.10084E-06
18008 41 E/G 59 None 0.8977 None gnomAD-4.0.0 1.20032E-06
18008 41 E/K 59 rs2054482853 0.8977 None gnomAD-4.0.0 3.18777E-06
18010 43 P/S 73 None 0.5025 None gnomAD-4.0.0 3.60097E-06
18011 44 T/A 74 rs766446275 0.4681 None gnomAD-2.1.1 8.09E-06
18011 44 T/A 74 rs766446275 0.4681 None gnomAD-4.0.0 1.23236E-05
18012 45 D/E 109 rs765319965 1.1255 None gnomAD-2.1.1 4.04E-06
18012 45 D/E 109 rs765319965 1.1255 None gnomAD-4.0.0 3.42315E-06
18012 45 D/N 109 None 1.1255 None gnomAD-4.0.0 1.59367E-06
18013 46 A/S 115 rs531242797 0.4857 None gnomAD-2.1.1 1.09207E-04
18013 46 A/S 115 rs531242797 0.4857 None gnomAD-3.1.2 2.63E-05
18013 46 A/S 115 rs531242797 0.4857 None 1000 genomes 1.99681E-04
18013 46 A/S 115 rs531242797 0.4857 None gnomAD-4.0.0 4.4027E-05
18013 46 A/T 115 rs531242797 0.4857 None gnomAD-2.1.1 4.04E-06
18013 46 A/T 115 rs531242797 0.4857 None gnomAD-4.0.0 6.84636E-07
18018 51 K/E 120 rs2054476187 0.4846 None gnomAD-4.0.0 1.27475E-05
18018 51 K/M 120 rs368425364 0.4846 None gnomAD-2.1.1 8.61E-05
18018 51 K/M 120 rs368425364 0.4846 None gnomAD-3.1.2 7.9E-05
18018 51 K/M 120 rs368425364 0.4846 None gnomAD-4.0.0 8.92918E-05
18021 54 V/A 123 rs1039563833 0.4071 None gnomAD-2.1.1 4.04E-06
18021 54 V/A 123 rs1039563833 0.4071 None gnomAD-4.0.0 6.84605E-07
18021 54 V/E 123 None 0.4071 None gnomAD-4.0.0 6.84605E-07
18022 55 S/C 125 None 0.2785 None gnomAD-4.0.0 3.60097E-06
18022 55 S/F 125 None 0.2785 None gnomAD-4.0.0 1.20032E-06
18022 55 S/P 125 rs188437486 0.2785 None gnomAD-3.1.2 6.58E-06
18022 55 S/P 125 rs188437486 0.2785 None 1000 genomes 1.99681E-04
18022 55 S/P 125 rs188437486 0.2785 None gnomAD-4.0.0 6.5773E-06
18023 56 R/P 127 None 0.9437 None gnomAD-4.0.0 6.84601E-07
18023 56 R/Q 127 rs727503603 0.9437 None gnomAD-2.1.1 1.54229E-04
18023 56 R/Q 127 rs727503603 0.9437 None gnomAD-3.1.2 9.22E-05
18023 56 R/Q 127 rs727503603 0.9437 None gnomAD-4.0.0 9.85983E-05
18024 57 S/G 130 None 0.3485 None gnomAD-4.0.0 1.59334E-06
18025 58 E/G 131 None 0.3309 None gnomAD-4.0.0 1.59332E-06
18025 58 E/K 131 rs2054470493 0.3309 None gnomAD-4.0.0 1.5934E-06
18027 60 K/E 135 rs374256705 0.2966 None gnomAD-2.1.1 8.08E-06
18027 60 K/E 135 rs374256705 0.2966 None gnomAD-4.0.0 1.59331E-06
18029 62 E/K 137 None 0.2609 None gnomAD-4.0.0 1.20032E-06
18030 63 L/F 138 None 0.0801 None gnomAD-4.0.0 1.3692E-06
18031 64 S/C 139 None 0.1692 None gnomAD-4.0.0 6.84583E-07
18031 64 S/G 139 rs397517615 0.1692 None gnomAD-2.1.1 8.07E-06
18031 64 S/G 139 rs397517615 0.1692 None gnomAD-3.1.2 3.95E-05
18031 64 S/G 139 rs397517615 0.1692 None gnomAD-4.0.0 8.0608E-06
18031 64 S/T 139 rs1259446367 0.1692 None gnomAD-2.1.1 1.21E-05
18031 64 S/T 139 rs1259446367 0.1692 None gnomAD-4.0.0 4.78001E-06
18032 65 I/T 140 None 0.1231 None gnomAD-4.0.0 1.59341E-06
18032 65 I/V 140 rs1227589199 0.1231 None gnomAD-2.1.1 4.04E-06
18032 65 I/V 140 rs1227589199 0.1231 None gnomAD-4.0.0 3.1867E-06
18033 66 P/S 141 rs2054465796 0.4130 None gnomAD-3.1.2 6.58E-06
18033 66 P/S 141 rs2054465796 0.4130 None gnomAD-4.0.0 6.58172E-06
18034 67 K/R 143 rs747897792 0.7539 None gnomAD-2.1.1 1.21E-05
18034 67 K/R 143 rs747897792 0.7539 None gnomAD-4.0.0 6.3743E-06
18035 68 A/V 144 rs182445366 0.1168 None gnomAD-2.1.1 4.3E-05
18035 68 A/V 144 rs182445366 0.1168 None gnomAD-3.1.2 1.57992E-04
18035 68 A/V 144 rs182445366 0.1168 None 1000 genomes 1.99681E-04
18035 68 A/V 144 rs182445366 0.1168 None gnomAD-4.0.0 4.03078E-05
18036 69 V/A 145 None 0.4098 None gnomAD-4.0.0 1.59373E-06
18037 70 R/Q 146 rs541688627 0.3018 None gnomAD-2.1.1 2.02E-05
18037 70 R/Q 146 rs541688627 0.3018 None gnomAD-3.1.2 6.58E-05
18037 70 R/Q 146 rs541688627 0.3018 None 1000 genomes 1.99681E-04
18037 70 R/Q 146 rs541688627 0.3018 None gnomAD-4.0.0 1.79846E-05
18037 70 R/W 146 rs201623791 0.3018 None gnomAD-2.1.1 5.73E-05
18037 70 R/W 146 rs201623791 0.3018 None gnomAD-3.1.2 7.9E-05
18037 70 R/W 146 rs201623791 0.3018 None gnomAD-4.0.0 1.10395E-04
18038 71 E/K 148 rs527887963 0.5035 None gnomAD-3.1.2 6.58E-06
18038 71 E/K 148 rs527887963 0.5035 None gnomAD-4.0.0 6.58137E-06
18038 71 E/Q 148 rs527887963 0.5035 None gnomAD-2.1.1 1.62E-05
18038 71 E/Q 148 rs527887963 0.5035 None gnomAD-3.1.2 6.58E-06
18038 71 E/Q 148 rs527887963 0.5035 None 1000 genomes 1.99681E-04
18038 71 E/Q 148 rs527887963 0.5035 None gnomAD-4.0.0 1.02648E-05
18039 72 D/N 149 rs765148928 0.2395 None gnomAD-2.1.1 4.44E-05
18039 72 D/N 149 rs765148928 0.2395 None gnomAD-3.1.2 3.95E-05
18039 72 D/N 149 rs765148928 0.2395 None gnomAD-4.0.0 7.19509E-05
18040 73 K/E 151 rs1465644822 0.6146 None gnomAD-2.1.1 4.04E-06
18040 73 K/E 151 rs1465644822 0.6146 None gnomAD-4.0.0 1.36952E-06
18040 73 K/R 151 None 0.6146 None gnomAD-4.0.0 1.20032E-06
18041 74 G/A 152 None 0.1285 None gnomAD-4.0.0 1.36982E-06
18041 74 G/R 152 None 0.1285 None gnomAD-4.0.0 1.08029E-05
18042 75 T/A 153 rs1034402778 0.2872 None gnomAD-4.0.0 3.42447E-06
18043 76 Y/F 154 None 0.1402 None gnomAD-4.0.0 1.20032E-06
18043 76 Y/H 154 rs757392311 0.1402 None gnomAD-2.1.1 4.04E-06
18043 76 Y/H 154 rs757392311 0.1402 None gnomAD-3.1.2 6.58E-06
18043 76 Y/H 154 rs757392311 0.1402 None gnomAD-4.0.0 6.58051E-06
18044 77 T/A 155 rs397517616 0.1714 None gnomAD-4.0.0 1.59573E-06
18044 77 T/I 155 rs1434797561 0.1714 None gnomAD-2.1.1 4.04E-06
18044 77 T/I 155 rs1434797561 0.1714 None gnomAD-4.0.0 2.74026E-06
18044 77 T/P 155 rs397517616 0.1714 None gnomAD-2.1.1 4.04E-06
18044 77 T/P 155 rs397517616 0.1714 None gnomAD-4.0.0 3.19145E-06
18046 79 T/N 157 None 0.2920 None gnomAD-4.0.0 1.3714E-06
18046 79 T/S 157 None 0.2920 None gnomAD-4.0.0 2.05709E-06
18047 80 A/T 158 rs760705006 0.1705 None gnomAD-2.1.1 4.06E-06
18047 80 A/T 158 rs760705006 0.1705 None gnomAD-4.0.0 1.60104E-06
18047 80 A/V 158 rs373815064 0.1705 None gnomAD-2.1.1 3.6E-05
18047 80 A/V 158 rs373815064 0.1705 None gnomAD-3.1.2 2.63E-05
18047 80 A/V 158 rs373815064 0.1705 None gnomAD-4.0.0 2.54889E-05
18048 81 S/P 159 rs878999356 0.2899 None gnomAD-2.1.1 1.63E-05
18048 81 S/P 159 rs878999356 0.2899 None gnomAD-3.1.2 1.97E-05
18048 81 S/P 159 rs878999356 0.2899 None gnomAD-4.0.0 6.28136E-05
18049 82 N/S 161 rs562393563 0.2114 None gnomAD-2.1.1 1.22E-05
18049 82 N/S 161 rs562393563 0.2114 None gnomAD-3.1.2 6.58E-06
18049 82 N/S 161 rs562393563 0.2114 None 1000 genomes 1.99681E-04
18049 82 N/S 161 rs562393563 0.2114 None gnomAD-4.0.0 8.70897E-06
18050 83 R/C 162 rs55734111 0.6836 None gnomAD-2.1.1 5.46575E-04
18050 83 R/C 162 rs55734111 0.6836 None gnomAD-3.1.2 2.30272E-04
18050 83 R/C 162 rs55734111 0.6836 None 1000 genomes 1.39776E-03
18050 83 R/C 162 rs55734111 0.6836 None gnomAD-4.0.0 1.64289E-04
18050 83 R/G 162 rs55734111 0.6836 None gnomAD-4.0.0 2.7495E-06
18050 83 R/H 162 rs774572776 0.6836 None gnomAD-4.0.0 9.6299E-06
18050 83 R/L 162 rs774572776 0.6836 None gnomAD-2.1.1 4.1E-06
18051 84 L/R 163 rs771364277 0.7938 None gnomAD-2.1.1 4.1E-06
18051 84 L/R 163 rs771364277 0.7938 None gnomAD-4.0.0 1.37559E-06
18052 85 G/A 164 None 0.3886 None gnomAD-4.0.0 2.06506E-06
18052 85 G/S 164 None 0.3886 None gnomAD-4.0.0 1.20032E-06
18053 86 S/P 165 rs1559718586 0.5913 None gnomAD-2.1.1 4.11E-06
18053 86 S/P 165 rs1559718586 0.5913 None gnomAD-4.0.0 1.61348E-06
18054 87 V/L 166 rs200968679 0.5386 None gnomAD-2.1.1 1.39062E-04
18054 87 V/L 166 rs200968679 0.5386 None gnomAD-3.1.2 1.25021E-04
18054 87 V/L 166 rs200968679 0.5386 None gnomAD-4.0.0 2.30265E-04
18055 88 F/L 168 rs776312018 0.6573 None gnomAD-4.0.0 1.62352E-06
18056 89 R/G 169 None 0.7184 None gnomAD-4.0.0 6.90367E-07
18056 89 R/Q 169 rs376932266 0.7184 None gnomAD-2.1.1 1.84E-05
18056 89 R/Q 169 rs376932266 0.7184 None gnomAD-3.1.2 4.61E-05
18056 89 R/Q 169 rs376932266 0.7184 None gnomAD-4.0.0 2.62526E-05
18057 90 N/H 171 None 0.4784 None gnomAD-4.0.0 1.20032E-06
18057 90 N/S 171 rs779769456 0.4784 None gnomAD-2.1.1 4.17E-06
18057 90 N/S 171 rs779769456 0.4784 None gnomAD-4.0.0 2.07167E-06
18057 90 N/T 171 None 0.4784 None gnomAD-4.0.0 6.90558E-07
18058 91 V/A 172 None 0.1766 None gnomAD-4.0.0 1.20032E-06
18059 92 H/Q 173 rs772133203 0.3197 None gnomAD-2.1.1 4.21E-06
18059 92 H/R 173 None 0.3197 None gnomAD-4.0.0 1.38367E-06
18059 92 H/Y 173 rs1329692225 0.3197 None gnomAD-2.1.1 3.19E-05
18060 93 V/A 174 rs778548912 0.1089 None gnomAD-2.1.1 1.69E-05
18060 93 V/A 174 rs778548912 0.1089 None gnomAD-4.0.0 4.15284E-06
18060 93 V/I 174 rs190574498 0.1089 None gnomAD-2.1.1 7.46E-05
18060 93 V/I 174 rs190574498 0.1089 None gnomAD-3.1.2 5.27E-05
18060 93 V/I 174 rs190574498 0.1089 None 1000 genomes 1.99681E-04
18060 93 V/I 174 rs190574498 0.1089 None gnomAD-4.0.0 4.50983E-05
18061 94 E/D 175 rs757026449 0.2342 None gnomAD-2.1.1 8.49E-06
18061 94 E/D 175 rs757026449 0.2342 None gnomAD-3.1.2 6.58E-06
18061 94 E/D 175 rs757026449 0.2342 None gnomAD-4.0.0 3.93583E-06
18061 94 E/K 175 None 0.2342 None gnomAD-4.0.0 1.63943E-06
18062 95 V/A 177 None 0.1196 None gnomAD-4.0.0 1.64082E-06
18062 95 V/E 177 rs753606067 0.1196 None gnomAD-2.1.1 4.25E-06
18062 95 V/E 177 rs753606067 0.1196 None gnomAD-3.1.2 6.58E-06
18062 95 V/E 177 rs753606067 0.1196 None gnomAD-4.0.0 2.6268E-06