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

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
31909 1 T/I 1 rs997340744 0.4817 None gnomAD-4.0.0 6.96522E-07
31909 1 T/N 1 rs997340744 0.4817 None gnomAD-3.1.2 6.57E-06
31909 1 T/N 1 rs997340744 0.4817 None gnomAD-4.0.0 1.25958E-06
31909 1 T/S 1 None 0.4817 None gnomAD-4.0.0 1.39304E-06
31910 2 P/A 2 None 0.1141 None gnomAD-4.0.0 1.65955E-06
31910 2 P/L 2 None 0.1141 None gnomAD-4.0.0 6.94496E-07
31910 2 P/S 2 rs199618831 0.1141 None gnomAD-2.1.1 8.39E-06
31910 2 P/S 2 rs199618831 0.1141 None gnomAD-4.0.0 4.97866E-06
31911 3 G/E 3 rs778837156 0.2398 None gnomAD-4.0.0 1.64654E-06
31913 5 P/L 5 None 0.1157 None gnomAD-4.0.0 1.61585E-06
31913 5 P/S 5 rs770922523 0.1157 None gnomAD-2.1.1 7.18E-06
31913 5 P/S 5 rs770922523 0.1157 None gnomAD-3.1.2 6.57E-06
31913 5 P/S 5 rs770922523 0.1157 None gnomAD-4.0.0 2.5935E-06
31915 7 A/S 7 rs1490243211 0.2914 None gnomAD-2.1.1 4.04E-06
31915 7 A/S 7 rs1490243211 0.2914 None gnomAD-3.1.2 2.63E-05
31915 7 A/S 7 rs1490243211 0.2914 None gnomAD-4.0.0 6.85325E-06
31917 9 R/S 11 rs762845985 0.3812 None gnomAD-2.1.1 4.03E-06
31917 9 R/S 11 rs762845985 0.3812 None gnomAD-4.0.0 4.81141E-06
31918 10 V/A 12 rs1426827889 0.3127 None gnomAD-3.1.2 6.57E-06
31918 10 V/A 12 rs1426827889 0.3127 None gnomAD-4.0.0 2.58001E-06
31918 10 V/F 12 rs1224201899 0.3127 None gnomAD-2.1.1 4.03E-06
31918 10 V/F 12 rs1224201899 0.3127 None gnomAD-3.1.2 6.57E-06
31918 10 V/F 12 rs1224201899 0.3127 None gnomAD-4.0.0 1.24437E-06
31918 10 V/I 12 None 0.3127 None gnomAD-4.0.0 6.87257E-07
31919 11 V/M 13 rs1696086052 0.3360 None gnomAD-4.0.0 1.60365E-06
31920 12 D/G 14 None 0.4757 None gnomAD-4.0.0 1.20032E-06
31922 14 T/A 16 rs773198280 0.3022 None gnomAD-2.1.1 4.03E-06
31922 14 T/A 16 rs773198280 0.3022 None gnomAD-3.1.2 6.57E-06
31922 14 T/A 16 rs773198280 0.3022 None gnomAD-4.0.0 2.56923E-06
31922 14 T/S 16 rs769771566 0.3022 None gnomAD-2.1.1 1.07E-05
31922 14 T/S 16 rs769771566 0.3022 None gnomAD-3.1.2 6.57E-06
31922 14 T/S 16 rs769771566 0.3022 None gnomAD-4.0.0 5.13805E-06
31923 15 K/E 17 None 0.4241 None gnomAD-4.0.0 1.20032E-06
31924 16 H/Q 18 rs747894883 0.5331 None gnomAD-2.1.1 8.05E-06
31924 16 H/Q 18 rs747894883 0.5331 None gnomAD-3.1.2 6.57E-06
31924 16 H/Q 18 rs747894883 0.5331 None gnomAD-4.0.0 3.85105E-06
31925 17 S/R 19 None 0.1688 None gnomAD-4.0.0 6.84393E-07
31926 18 I/T 20 None 0.0818 None gnomAD-4.0.0 1.5921E-06
31930 22 W/C 24 None 0.1061 None gnomAD-4.0.0 1.59159E-06
31931 23 T/N 25 None 0.5249 None gnomAD-4.0.0 2.73702E-06
31933 25 P/A 27 None 0.1610 None gnomAD-4.0.0 1.20033E-06
31934 26 M/I 28 rs1365026291 1.1082 None gnomAD-2.1.1 4.02E-06
31934 26 M/I 28 rs1365026291 1.1082 None gnomAD-4.0.0 6.36576E-06
31934 26 M/T 28 None 1.1082 None gnomAD-4.0.0 7.52664E-06
31934 26 M/V 28 rs1696075318 1.1082 None gnomAD-4.0.0 1.59144E-06
31936 28 D/E 30 rs1696070748 0.3635 None gnomAD-4.0.0 6.36576E-06
31936 28 D/N 30 rs267599025 0.3635 None gnomAD-2.1.1 2.5E-05
31936 28 D/N 30 rs267599025 0.3635 None gnomAD-3.1.2 3.94E-05
31936 28 D/N 30 rs267599025 0.3635 None gnomAD-4.0.0 1.67326E-05
31938 30 G/A 32 rs747138440 0.4982 None gnomAD-2.1.1 4.02E-06
31938 30 G/A 32 rs747138440 0.4982 None gnomAD-4.0.0 6.36568E-06
31938 30 G/S 32 rs1559132766 0.4982 None gnomAD-2.1.1 3.19E-05
31938 30 G/S 32 rs1559132766 0.4982 None gnomAD-3.1.2 6.57E-06
31938 30 G/S 32 rs1559132766 0.4982 None gnomAD-4.0.0 2.5625E-06
31939 31 T/A 33 rs780048908 0.3768 None gnomAD-2.1.1 3.62E-05
31939 31 T/A 33 rs780048908 0.3768 None gnomAD-4.0.0 1.43226E-05
31939 31 T/I 33 None 0.3768 None gnomAD-4.0.0 3.60102E-06
31940 32 D/H 34 None 0.9979 None gnomAD-4.0.0 6.84242E-07
31940 32 D/N 34 rs188213186 0.9979 None gnomAD-2.1.1 8.04E-06
31940 32 D/N 34 rs188213186 0.9979 None gnomAD-3.1.2 6.57E-06
31940 32 D/N 34 rs188213186 0.9979 None 1000 genomes 1.99681E-04
31940 32 D/N 34 rs188213186 0.9979 None gnomAD-4.0.0 2.47871E-06
31940 32 D/V 34 None 0.9979 None gnomAD-4.0.0 1.5914E-06
31941 33 I/S 35 rs779376834 0.2146 None gnomAD-2.1.1 8.04E-06
31941 33 I/S 35 rs779376834 0.2146 None gnomAD-3.1.2 6.57E-06
31941 33 I/S 35 rs779376834 0.2146 None gnomAD-4.0.0 9.2961E-06
31941 33 I/T 35 rs779376834 0.2146 None gnomAD-2.1.1 3.18E-05
31941 33 I/T 35 rs779376834 0.2146 None gnomAD-3.1.2 1.97E-05
31941 33 I/T 35 rs779376834 0.2146 None gnomAD-4.0.0 2.47896E-06
31941 33 I/V 35 rs750955565 0.2146 None gnomAD-2.1.1 8.04E-06
31941 33 I/V 35 rs750955565 0.2146 None gnomAD-4.0.0 3.18281E-06
31942 34 V/I 36 rs757627281 0.5319 None gnomAD-2.1.1 2.01E-05
31942 34 V/I 36 rs757627281 0.5319 None gnomAD-3.1.2 6.57E-06
31942 34 V/I 36 rs757627281 0.5319 None gnomAD-4.0.0 1.54935E-05
31945 37 V/I 39 None 0.1563 None gnomAD-4.0.0 1.20032E-06
31946 38 L/V 40 rs1405729797 0.0880 None gnomAD-3.1.2 6.57E-06
31946 38 L/V 40 rs1405729797 0.0880 None gnomAD-4.0.0 6.5741E-06
31947 39 E/G 41 None 0.1063 None gnomAD-4.0.0 1.59136E-06
31948 40 M/L 42 None 0.1617 None gnomAD-4.0.0 1.59135E-06
31948 40 M/T 42 rs377603482 0.1617 None gnomAD-2.1.1 3.93E-05
31948 40 M/T 42 rs377603482 0.1617 None gnomAD-3.1.2 5.92E-05
31948 40 M/T 42 rs377603482 0.1617 None gnomAD-4.0.0 1.73523E-05
31950 42 E/K 44 rs727505199 0.2450 None gnomAD-2.1.1 4.02E-06
31950 42 E/K 44 rs727505199 0.2450 None gnomAD-4.0.0 1.36847E-06
31951 43 K/R 50 None 0.2986 None gnomAD-4.0.0 1.59141E-06
31953 45 T/S 60 None 0.3301 None gnomAD-4.0.0 1.59137E-06
31954 46 D/E 63 rs765845110 1.1198 None gnomAD-2.1.1 4.02E-06
31955 47 Q/L 64 rs552683796 0.4103 None gnomAD-2.1.1 3.62E-05
31955 47 Q/L 64 rs552683796 0.4103 None gnomAD-3.1.2 1.31E-05
31955 47 Q/L 64 rs552683796 0.4103 None 1000 genomes 1.99681E-04
31955 47 Q/L 64 rs552683796 0.4103 None gnomAD-4.0.0 1.3632E-05
31956 48 W/R 65 rs1696042845 0.2031 None gnomAD-3.1.2 6.57E-06
31956 48 W/R 65 rs1696042845 0.2031 None gnomAD-4.0.0 4.0599E-06
31956 48 W/S 65 None 0.2031 None gnomAD-4.0.0 2.05268E-06
31957 49 Y/H 66 rs1302879352 0.3908 None gnomAD-2.1.1 4.02E-06
31957 49 Y/H 66 rs1302879352 0.3908 None gnomAD-4.0.0 1.59135E-06
31958 50 R/Q 67 rs763270971 0.2628 None gnomAD-2.1.1 3.93E-05
31958 50 R/Q 67 rs763270971 0.2628 None gnomAD-3.1.2 1.97E-05
31958 50 R/Q 67 rs763270971 0.2628 None gnomAD-4.0.0 9.66778E-05
31959 51 V/E 68 rs761732372 0.1578 None gnomAD-2.1.1 8.04E-06
31959 51 V/E 68 rs761732372 0.1578 None gnomAD-3.1.2 1.97E-05
31959 51 V/E 68 rs761732372 0.1578 None gnomAD-4.0.0 8.96879E-06
31959 51 V/L 68 rs1372238245 0.1578 None gnomAD-2.1.1 8.04E-06
31959 51 V/L 68 rs1372238245 0.1578 None gnomAD-3.1.2 1.31E-05
31959 51 V/L 68 rs1372238245 0.1578 None gnomAD-4.0.0 6.40594E-06
31960 52 H/R 69 rs776521449 0.1269 None gnomAD-2.1.1 8.04E-06
31960 52 H/R 69 rs776521449 0.1269 None gnomAD-4.0.0 4.77406E-06
31961 53 T/A 70 rs1696035879 1.0041 None gnomAD-4.0.0 1.59136E-06
31961 53 T/I 70 rs1336039632 1.0041 None gnomAD-2.1.1 4.02E-06
31962 54 N/D 72 rs369087584 0.7799 None gnomAD-2.1.1 4.28E-05
31962 54 N/D 72 rs369087584 0.7799 None gnomAD-3.1.2 1.90549E-04
31962 54 N/D 72 rs369087584 0.7799 None gnomAD-4.0.0 3.65621E-05
31962 54 N/I 72 rs535943753 0.7799 None gnomAD-2.1.1 3.21E-05
31962 54 N/I 72 rs535943753 0.7799 None gnomAD-3.1.2 7.88E-05
31962 54 N/I 72 rs535943753 0.7799 None 1000 genomes 1.99681E-04
31962 54 N/I 72 rs535943753 0.7799 None gnomAD-4.0.0 1.67307E-05
31964 56 T/I 75 rs1354236675 0.2416 None gnomAD-2.1.1 3.19E-05
31964 56 T/I 75 rs1354236675 0.2416 None gnomAD-3.1.2 6.58E-06
31964 56 T/I 75 rs1354236675 0.2416 None gnomAD-4.0.0 6.57869E-06
31964 56 T/K 75 rs1354236675 0.2416 None gnomAD-3.1.2 6.58E-06
31964 56 T/K 75 rs1354236675 0.2416 None gnomAD-4.0.0 2.47909E-06
31965 57 I/V 77 rs1696027685 0.0946 None gnomAD-4.0.0 2.40064E-06
31966 58 R/I 83 rs772097745 0.9094 None gnomAD-2.1.1 4.02E-06
31966 58 R/I 83 rs772097745 0.9094 None gnomAD-4.0.0 1.59138E-06
31966 58 R/K 83 None 0.9094 None gnomAD-2.1.1 4.02E-06
31966 58 R/K 83 None 0.9094 None gnomAD-4.0.0 7.95692E-06
31966 58 R/T 83 rs772097745 0.9094 None gnomAD-2.1.1 4.02E-06
31966 58 R/T 83 rs772097745 0.9094 None gnomAD-4.0.0 1.59138E-06
31968 60 T/I 89 None 0.2516 None gnomAD-4.0.0 1.59144E-06
31968 60 T/N 89 rs1696025684 0.2516 None gnomAD-3.1.2 6.57E-06
31968 60 T/N 89 rs1696025684 0.2516 None gnomAD-4.0.0 2.56251E-06
31970 62 F/L 91 None 0.2074 None gnomAD-4.0.0 1.20032E-06
31972 64 V/M 93 rs745900975 0.1195 None gnomAD-2.1.1 4.02E-06
31972 64 V/M 93 rs745900975 0.1195 None gnomAD-4.0.0 6.36568E-06
31973 65 P/L 94 rs377462274 0.4231 None gnomAD-2.1.1 4.02E-06
31973 65 P/L 94 rs377462274 0.4231 None gnomAD-3.1.2 6.57E-06
31973 65 P/L 94 rs377462274 0.4231 None gnomAD-4.0.0 6.57402E-06
31974 66 D/E 96 rs1239268108 0.8587 None gnomAD-2.1.1 4.02E-06
31974 66 D/E 96 rs1239268108 0.8587 None gnomAD-4.0.0 1.59137E-06
31974 66 D/G 96 rs1441974085 0.8587 None gnomAD-2.1.1 4.02E-06
31974 66 D/G 96 rs1441974085 0.8587 None gnomAD-4.0.0 1.59138E-06
31975 67 L/F 97 rs757718784 0.1102 None gnomAD-2.1.1 8.05E-06
31975 67 L/F 97 rs757718784 0.1102 None gnomAD-4.0.0 1.20032E-06
31977 69 M/I 99 rs1575423808 0.6640 None gnomAD-4.0.0 1.59137E-06
31977 69 M/T 99 rs1481950216 0.6640 None gnomAD-2.1.1 8.05E-06
31977 69 M/T 99 rs1481950216 0.6640 None gnomAD-4.0.0 4.78959E-06
31978 70 G/D 100 rs1210276055 0.4405 None gnomAD-2.1.1 4.02E-06
31978 70 G/D 100 rs1210276055 0.4405 None gnomAD-4.0.0 2.7369E-06
31980 72 K/E 103 rs1315935878 0.2633 None gnomAD-2.1.1 4.02E-06
31980 72 K/E 103 rs1315935878 0.2633 None gnomAD-4.0.0 1.59133E-06
31980 72 K/N 103 None 0.2633 None gnomAD-4.0.0 1.20032E-06
31982 74 S/F 105 None 0.1827 None gnomAD-4.0.0 1.36845E-06
31983 75 F/L 106 None 0.1044 None gnomAD-4.0.0 3.18269E-06
31984 76 R/G 107 rs2154144165 0.1114 None gnomAD-4.0.0 1.36845E-06
31984 76 R/S 107 None 0.1114 None gnomAD-4.0.0 1.20032E-06
31985 77 V/D 108 rs1242003251 0.0611 None gnomAD-2.1.1 4.02E-06
31985 77 V/D 108 rs1242003251 0.0611 None gnomAD-4.0.0 1.59135E-06
31985 77 V/I 108 rs373484878 0.0611 None gnomAD-3.1.2 1.97E-05
31985 77 V/I 108 rs373484878 0.0611 None gnomAD-4.0.0 4.05982E-06
31986 78 A/V 109 None 0.0622 None gnomAD-4.0.0 1.59134E-06
31987 79 A/S 110 None 0.0793 None gnomAD-4.0.0 6.84223E-06
31988 80 V/M 111 rs756469423 0.1775 None gnomAD-2.1.1 4.29E-05
31988 80 V/M 111 rs756469423 0.1775 None gnomAD-3.1.2 5.26E-05
31988 80 V/M 111 rs756469423 0.1775 None gnomAD-4.0.0 4.09004E-05
31989 81 N/K 112 rs775762346 0.1041 None gnomAD-3.1.2 6.57E-06
31989 81 N/K 112 rs775762346 0.1041 None gnomAD-4.0.0 3.09866E-06
31990 82 V/L 113 rs727503541 0.6433 None gnomAD-2.1.1 7.14E-06
31990 82 V/L 113 rs727503541 0.6433 None gnomAD-3.1.2 6.57E-06
31990 82 V/L 113 rs727503541 0.6433 None gnomAD-4.0.0 2.47879E-06
31990 82 V/M 113 rs727503541 0.6433 None gnomAD-2.1.1 3.21E-05
31990 82 V/M 113 rs727503541 0.6433 None gnomAD-3.1.2 1.97E-05
31990 82 V/M 113 rs727503541 0.6433 None gnomAD-4.0.0 4.02804E-05
31992 84 G/S 115 rs1360100058 0.2250 None gnomAD-2.1.1 4.02E-06
31992 84 G/S 115 rs1360100058 0.2250 None gnomAD-4.0.0 1.59137E-06
31993 85 M/I 117 rs749913152 0.2881 None gnomAD-2.1.1 8.05E-06
31993 85 M/I 117 rs749913152 0.2881 None gnomAD-4.0.0 6.84229E-07
31993 85 M/L 117 None 0.2881 None gnomAD-4.0.0 3.1827E-06
31994 86 S/N 118 rs1317294203 0.1030 None gnomAD-3.1.2 6.57E-06
31994 86 S/N 118 rs1317294203 0.1030 None gnomAD-4.0.0 6.57168E-06
31994 86 S/R 118 rs761895710 0.1030 None gnomAD-2.1.1 8.05E-06
31994 86 S/R 118 rs761895710 0.1030 None gnomAD-4.0.0 1.36846E-06
31995 87 E/K 119 rs776682000 0.7181 None gnomAD-2.1.1 2.01E-05
31995 87 E/K 119 rs776682000 0.7181 None gnomAD-3.1.2 1.31E-05
31995 87 E/K 119 rs776682000 0.7181 None gnomAD-4.0.0 1.67326E-05
31997 89 S/C 121 None 0.1235 None gnomAD-4.0.0 6.84264E-07
31997 89 S/G 121 rs763864462 0.1235 None gnomAD-2.1.1 2.42E-05
31997 89 S/G 121 rs763864462 0.1235 None gnomAD-4.0.0 6.84264E-06
31997 89 S/N 121 None 0.1235 None gnomAD-4.0.0 1.59162E-06
31998 90 E/A 122 rs1181902339 0.9307 None gnomAD-2.1.1 4.03E-06
31998 90 E/A 122 rs1181902339 0.9307 None gnomAD-4.0.0 3.18339E-06
31998 90 E/K 122 rs775585263 0.9307 None gnomAD-2.1.1 8.05E-06
31998 90 E/K 122 rs775585263 0.9307 None gnomAD-3.1.2 1.97E-05
31998 90 E/K 122 rs775585263 0.9307 None gnomAD-4.0.0 1.73542E-05
32000 92 I/L 124 None 0.2452 None gnomAD-4.0.0 6.8439E-07
32000 92 I/T 124 rs772265662 0.2452 None gnomAD-2.1.1 1.21E-05
32000 92 I/T 124 rs772265662 0.2452 None gnomAD-4.0.0 8.8972E-06
32000 92 I/V 124 rs769971164 0.2452 None gnomAD-3.1.2 6.57E-06
32000 92 I/V 124 rs769971164 0.2452 None gnomAD-4.0.0 1.17767E-05
32002 94 E/D 126 None 0.3958 None gnomAD-4.0.0 2.05345E-06
32003 95 I/N 127 rs745962752 0.1866 None gnomAD-4.0.0 2.1219E-05
32003 95 I/T 127 rs745962752 0.1866 None gnomAD-2.1.1 1.21E-05
32003 95 I/T 127 rs745962752 0.1866 None gnomAD-3.1.2 1.97E-05
32003 95 I/T 127 rs745962752 0.1866 None gnomAD-4.0.0 2.66564E-05
32005 97 P/S 130 None 0.1020 None gnomAD-4.0.0 1.20032E-06
32006 98 V/A 131 rs966964393 0.4713 None gnomAD-2.1.1 8.06E-06
32006 98 V/A 131 rs966964393 0.4713 None gnomAD-4.0.0 1.36941E-05
32006 98 V/M 131 rs191786700 0.4713 None gnomAD-2.1.1 1.96795E-04
32006 98 V/M 131 rs191786700 0.4713 None gnomAD-3.1.2 3.6139E-04
32006 98 V/M 131 rs191786700 0.4713 None 1000 genomes 9.98403E-04
32006 98 V/M 131 rs191786700 0.4713 None gnomAD-4.0.0 2.00904E-04
32007 99 E/D 132 rs569522219 0.4042 None gnomAD-2.1.1 4.03E-06
32007 99 E/D 132 rs569522219 0.4042 None gnomAD-3.1.2 6.57E-06
32007 99 E/D 132 rs569522219 0.4042 None 1000 genomes 1.99681E-04
32007 99 E/D 132 rs569522219 0.4042 None gnomAD-4.0.0 6.56521E-06
32007 99 E/G 132 rs1205390409 0.4042 None gnomAD-3.1.2 6.57E-06
32007 99 E/G 132 rs1205390409 0.4042 None gnomAD-4.0.0 6.57039E-06