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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31909 1 T/I 1 rs997340744 0.5611 None gnomAD-4.0.0 6.96522E-07
31909 1 T/N 1 rs997340744 0.5611 None gnomAD-3.1.2 6.57E-06
31909 1 T/N 1 rs997340744 0.5611 None gnomAD-4.0.0 1.25958E-06
31909 1 T/S 1 None 0.5611 None gnomAD-4.0.0 1.39304E-06
31910 2 P/A 2 None 0.1238 None gnomAD-4.0.0 1.65955E-06
31910 2 P/L 2 None 0.1238 None gnomAD-4.0.0 6.94496E-07
31910 2 P/S 2 rs199618831 0.1238 None gnomAD-2.1.1 8.39E-06
31910 2 P/S 2 rs199618831 0.1238 None gnomAD-4.0.0 4.97866E-06
31911 3 G/E 3 rs778837156 0.2415 None gnomAD-4.0.0 1.64654E-06
31913 5 P/L 5 None 0.1204 None gnomAD-4.0.0 1.61585E-06
31913 5 P/S 5 rs770922523 0.1204 None gnomAD-2.1.1 7.18E-06
31913 5 P/S 5 rs770922523 0.1204 None gnomAD-3.1.2 6.57E-06
31913 5 P/S 5 rs770922523 0.1204 None gnomAD-4.0.0 2.5935E-06
31915 7 A/S 7 rs1490243211 0.2798 None gnomAD-2.1.1 4.04E-06
31915 7 A/S 7 rs1490243211 0.2798 None gnomAD-3.1.2 2.63E-05
31915 7 A/S 7 rs1490243211 0.2798 None gnomAD-4.0.0 6.85325E-06
31917 9 R/S 11 rs762845985 0.4295 None gnomAD-2.1.1 4.03E-06
31917 9 R/S 11 rs762845985 0.4295 None gnomAD-4.0.0 4.81141E-06
31918 10 V/A 12 rs1426827889 0.3333 None gnomAD-3.1.2 6.57E-06
31918 10 V/A 12 rs1426827889 0.3333 None gnomAD-4.0.0 2.58001E-06
31918 10 V/F 12 rs1224201899 0.3333 None gnomAD-2.1.1 4.03E-06
31918 10 V/F 12 rs1224201899 0.3333 None gnomAD-3.1.2 6.57E-06
31918 10 V/F 12 rs1224201899 0.3333 None gnomAD-4.0.0 1.24437E-06
31918 10 V/I 12 None 0.3333 None gnomAD-4.0.0 6.87257E-07
31919 11 V/M 13 rs1696086052 0.3647 None gnomAD-4.0.0 1.60365E-06
31920 12 D/G 14 None 0.3690 None gnomAD-4.0.0 1.20032E-06
31922 14 T/A 16 rs773198280 0.3188 None gnomAD-2.1.1 4.03E-06
31922 14 T/A 16 rs773198280 0.3188 None gnomAD-3.1.2 6.57E-06
31922 14 T/A 16 rs773198280 0.3188 None gnomAD-4.0.0 2.56923E-06
31922 14 T/S 16 rs769771566 0.3188 None gnomAD-2.1.1 1.07E-05
31922 14 T/S 16 rs769771566 0.3188 None gnomAD-3.1.2 6.57E-06
31922 14 T/S 16 rs769771566 0.3188 None gnomAD-4.0.0 5.13805E-06
31923 15 K/E 17 None 0.4208 None gnomAD-4.0.0 1.20032E-06
31924 16 H/Q 18 rs747894883 0.5305 None gnomAD-2.1.1 8.05E-06
31924 16 H/Q 18 rs747894883 0.5305 None gnomAD-3.1.2 6.57E-06
31924 16 H/Q 18 rs747894883 0.5305 None gnomAD-4.0.0 3.85105E-06
31925 17 S/R 19 None 0.1887 None gnomAD-4.0.0 6.84393E-07
31926 18 I/T 20 None 0.0929 None gnomAD-4.0.0 1.5921E-06
31930 22 W/C 24 None 0.1095 None gnomAD-4.0.0 1.59159E-06
31931 23 T/N 25 None 0.5261 None gnomAD-4.0.0 2.73702E-06
31933 25 P/A 27 None 0.1840 None gnomAD-4.0.0 1.20033E-06
31934 26 M/I 28 rs1365026291 1.0681 None gnomAD-2.1.1 4.02E-06
31934 26 M/I 28 rs1365026291 1.0681 None gnomAD-4.0.0 6.36576E-06
31934 26 M/T 28 None 1.0681 None gnomAD-4.0.0 7.52664E-06
31934 26 M/V 28 rs1696075318 1.0681 None gnomAD-4.0.0 1.59144E-06
31936 28 D/E 30 rs1696070748 0.3082 None gnomAD-4.0.0 6.36576E-06
31936 28 D/N 30 rs267599025 0.3082 None gnomAD-2.1.1 2.5E-05
31936 28 D/N 30 rs267599025 0.3082 None gnomAD-3.1.2 3.94E-05
31936 28 D/N 30 rs267599025 0.3082 None gnomAD-4.0.0 1.67326E-05
31938 30 G/A 32 rs747138440 0.5070 None gnomAD-2.1.1 4.02E-06
31938 30 G/A 32 rs747138440 0.5070 None gnomAD-4.0.0 6.36568E-06
31938 30 G/S 32 rs1559132766 0.5070 None gnomAD-2.1.1 3.19E-05
31938 30 G/S 32 rs1559132766 0.5070 None gnomAD-3.1.2 6.57E-06
31938 30 G/S 32 rs1559132766 0.5070 None gnomAD-4.0.0 2.5625E-06
31939 31 T/A 33 rs780048908 0.3418 None gnomAD-2.1.1 3.62E-05
31939 31 T/A 33 rs780048908 0.3418 None gnomAD-4.0.0 1.43226E-05
31939 31 T/I 33 None 0.3418 None gnomAD-4.0.0 3.60102E-06
31940 32 D/H 34 None 0.9800 None gnomAD-4.0.0 6.84242E-07
31940 32 D/N 34 rs188213186 0.9800 None gnomAD-2.1.1 8.04E-06
31940 32 D/N 34 rs188213186 0.9800 None gnomAD-3.1.2 6.57E-06
31940 32 D/N 34 rs188213186 0.9800 None 1000 genomes 1.99681E-04
31940 32 D/N 34 rs188213186 0.9800 None gnomAD-4.0.0 2.47871E-06
31940 32 D/V 34 None 0.9800 None gnomAD-4.0.0 1.5914E-06
31941 33 I/S 35 rs779376834 0.1991 None gnomAD-2.1.1 8.04E-06
31941 33 I/S 35 rs779376834 0.1991 None gnomAD-3.1.2 6.57E-06
31941 33 I/S 35 rs779376834 0.1991 None gnomAD-4.0.0 9.2961E-06
31941 33 I/T 35 rs779376834 0.1991 None gnomAD-2.1.1 3.18E-05
31941 33 I/T 35 rs779376834 0.1991 None gnomAD-3.1.2 1.97E-05
31941 33 I/T 35 rs779376834 0.1991 None gnomAD-4.0.0 2.47896E-06
31941 33 I/V 35 rs750955565 0.1991 None gnomAD-2.1.1 8.04E-06
31941 33 I/V 35 rs750955565 0.1991 None gnomAD-4.0.0 3.18281E-06
31942 34 V/I 36 rs757627281 0.5269 None gnomAD-2.1.1 2.01E-05
31942 34 V/I 36 rs757627281 0.5269 None gnomAD-3.1.2 6.57E-06
31942 34 V/I 36 rs757627281 0.5269 None gnomAD-4.0.0 1.54935E-05
31945 37 V/I 39 None 0.1806 None gnomAD-4.0.0 1.20032E-06
31946 38 L/V 40 rs1405729797 0.0988 None gnomAD-3.1.2 6.57E-06
31946 38 L/V 40 rs1405729797 0.0988 None gnomAD-4.0.0 6.5741E-06
31947 39 E/G 41 None 0.1194 None gnomAD-4.0.0 1.59136E-06
31948 40 M/L 42 None 0.1866 None gnomAD-4.0.0 1.59135E-06
31948 40 M/T 42 rs377603482 0.1866 None gnomAD-2.1.1 3.93E-05
31948 40 M/T 42 rs377603482 0.1866 None gnomAD-3.1.2 5.92E-05
31948 40 M/T 42 rs377603482 0.1866 None gnomAD-4.0.0 1.73523E-05
31950 42 E/K 44 rs727505199 0.2668 None gnomAD-2.1.1 4.02E-06
31950 42 E/K 44 rs727505199 0.2668 None gnomAD-4.0.0 1.36847E-06
31951 43 K/R 50 None 0.2940 None gnomAD-4.0.0 1.59141E-06
31953 45 T/S 60 None 0.3311 None gnomAD-4.0.0 1.59137E-06
31954 46 D/E 63 rs765845110 1.1253 None gnomAD-2.1.1 4.02E-06
31955 47 Q/L 64 rs552683796 0.4085 None gnomAD-2.1.1 3.62E-05
31955 47 Q/L 64 rs552683796 0.4085 None gnomAD-3.1.2 1.31E-05
31955 47 Q/L 64 rs552683796 0.4085 None 1000 genomes 1.99681E-04
31955 47 Q/L 64 rs552683796 0.4085 None gnomAD-4.0.0 1.3632E-05
31956 48 W/R 65 rs1696042845 0.2119 None gnomAD-3.1.2 6.57E-06
31956 48 W/R 65 rs1696042845 0.2119 None gnomAD-4.0.0 4.0599E-06
31956 48 W/S 65 None 0.2119 None gnomAD-4.0.0 2.05268E-06
31957 49 Y/H 66 rs1302879352 0.3893 None gnomAD-2.1.1 4.02E-06
31957 49 Y/H 66 rs1302879352 0.3893 None gnomAD-4.0.0 1.59135E-06
31958 50 R/Q 67 rs763270971 0.2710 None gnomAD-2.1.1 3.93E-05
31958 50 R/Q 67 rs763270971 0.2710 None gnomAD-3.1.2 1.97E-05
31958 50 R/Q 67 rs763270971 0.2710 None gnomAD-4.0.0 9.66778E-05
31959 51 V/E 68 rs761732372 0.1588 None gnomAD-2.1.1 8.04E-06
31959 51 V/E 68 rs761732372 0.1588 None gnomAD-3.1.2 1.97E-05
31959 51 V/E 68 rs761732372 0.1588 None gnomAD-4.0.0 8.96879E-06
31959 51 V/L 68 rs1372238245 0.1588 None gnomAD-2.1.1 8.04E-06
31959 51 V/L 68 rs1372238245 0.1588 None gnomAD-3.1.2 1.31E-05
31959 51 V/L 68 rs1372238245 0.1588 None gnomAD-4.0.0 6.40594E-06
31960 52 H/R 69 rs776521449 0.1257 None gnomAD-2.1.1 8.04E-06
31960 52 H/R 69 rs776521449 0.1257 None gnomAD-4.0.0 4.77406E-06
31961 53 T/A 70 rs1696035879 0.9646 None gnomAD-4.0.0 1.59136E-06
31961 53 T/I 70 rs1336039632 0.9646 None gnomAD-2.1.1 4.02E-06
31962 54 N/D 72 rs369087584 0.7010 None gnomAD-2.1.1 4.28E-05
31962 54 N/D 72 rs369087584 0.7010 None gnomAD-3.1.2 1.90549E-04
31962 54 N/D 72 rs369087584 0.7010 None gnomAD-4.0.0 3.65621E-05
31962 54 N/I 72 rs535943753 0.7010 None gnomAD-2.1.1 3.21E-05
31962 54 N/I 72 rs535943753 0.7010 None gnomAD-3.1.2 7.88E-05
31962 54 N/I 72 rs535943753 0.7010 None 1000 genomes 1.99681E-04
31962 54 N/I 72 rs535943753 0.7010 None gnomAD-4.0.0 1.67307E-05
31964 56 T/I 75 rs1354236675 0.2280 None gnomAD-2.1.1 3.19E-05
31964 56 T/I 75 rs1354236675 0.2280 None gnomAD-3.1.2 6.58E-06
31964 56 T/I 75 rs1354236675 0.2280 None gnomAD-4.0.0 6.57869E-06
31964 56 T/K 75 rs1354236675 0.2280 None gnomAD-3.1.2 6.58E-06
31964 56 T/K 75 rs1354236675 0.2280 None gnomAD-4.0.0 2.47909E-06
31965 57 I/V 77 rs1696027685 0.0944 None gnomAD-4.0.0 2.40064E-06
31966 58 R/I 83 rs772097745 0.9000 None gnomAD-2.1.1 4.02E-06
31966 58 R/I 83 rs772097745 0.9000 None gnomAD-4.0.0 1.59138E-06
31966 58 R/K 83 None 0.9000 None gnomAD-2.1.1 4.02E-06
31966 58 R/K 83 None 0.9000 None gnomAD-4.0.0 7.95692E-06
31966 58 R/T 83 rs772097745 0.9000 None gnomAD-2.1.1 4.02E-06
31966 58 R/T 83 rs772097745 0.9000 None gnomAD-4.0.0 1.59138E-06
31968 60 T/I 89 None 0.2197 None gnomAD-4.0.0 1.59144E-06
31968 60 T/N 89 rs1696025684 0.2197 None gnomAD-3.1.2 6.57E-06
31968 60 T/N 89 rs1696025684 0.2197 None gnomAD-4.0.0 2.56251E-06
31970 62 F/L 91 None 0.2059 None gnomAD-4.0.0 1.20032E-06
31972 64 V/M 93 rs745900975 0.1226 None gnomAD-2.1.1 4.02E-06
31972 64 V/M 93 rs745900975 0.1226 None gnomAD-4.0.0 6.36568E-06
31973 65 P/L 94 rs377462274 0.4225 None gnomAD-2.1.1 4.02E-06
31973 65 P/L 94 rs377462274 0.4225 None gnomAD-3.1.2 6.57E-06
31973 65 P/L 94 rs377462274 0.4225 None gnomAD-4.0.0 6.57402E-06
31974 66 D/E 96 rs1239268108 0.8545 None gnomAD-2.1.1 4.02E-06
31974 66 D/E 96 rs1239268108 0.8545 None gnomAD-4.0.0 1.59137E-06
31974 66 D/G 96 rs1441974085 0.8545 None gnomAD-2.1.1 4.02E-06
31974 66 D/G 96 rs1441974085 0.8545 None gnomAD-4.0.0 1.59138E-06
31975 67 L/F 97 rs757718784 0.1114 None gnomAD-2.1.1 8.05E-06
31975 67 L/F 97 rs757718784 0.1114 None gnomAD-4.0.0 1.20032E-06
31977 69 M/I 99 rs1575423808 0.6657 None gnomAD-4.0.0 1.59137E-06
31977 69 M/T 99 rs1481950216 0.6657 None gnomAD-2.1.1 8.05E-06
31977 69 M/T 99 rs1481950216 0.6657 None gnomAD-4.0.0 4.78959E-06
31978 70 G/D 100 rs1210276055 0.4378 None gnomAD-2.1.1 4.02E-06
31978 70 G/D 100 rs1210276055 0.4378 None gnomAD-4.0.0 2.7369E-06
31980 72 K/E 103 rs1315935878 0.2747 None gnomAD-2.1.1 4.02E-06
31980 72 K/E 103 rs1315935878 0.2747 None gnomAD-4.0.0 1.59133E-06
31980 72 K/N 103 None 0.2747 None gnomAD-4.0.0 1.20032E-06
31982 74 S/F 105 None 0.1711 None gnomAD-4.0.0 1.36845E-06
31983 75 F/L 106 None 0.1070 None gnomAD-4.0.0 3.18269E-06
31984 76 R/G 107 rs2154144165 0.1242 None gnomAD-4.0.0 1.36845E-06
31984 76 R/S 107 None 0.1242 None gnomAD-4.0.0 1.20032E-06
31985 77 V/D 108 rs1242003251 0.0616 None gnomAD-2.1.1 4.02E-06
31985 77 V/D 108 rs1242003251 0.0616 None gnomAD-4.0.0 1.59135E-06
31985 77 V/I 108 rs373484878 0.0616 None gnomAD-3.1.2 1.97E-05
31985 77 V/I 108 rs373484878 0.0616 None gnomAD-4.0.0 4.05982E-06
31986 78 A/V 109 None 0.0586 None gnomAD-4.0.0 1.59134E-06
31987 79 A/S 110 None 0.0753 None gnomAD-4.0.0 6.84223E-06
31988 80 V/M 111 rs756469423 0.1818 None gnomAD-2.1.1 4.29E-05
31988 80 V/M 111 rs756469423 0.1818 None gnomAD-3.1.2 5.26E-05
31988 80 V/M 111 rs756469423 0.1818 None gnomAD-4.0.0 4.09004E-05
31989 81 N/K 112 rs775762346 0.1016 None gnomAD-3.1.2 6.57E-06
31989 81 N/K 112 rs775762346 0.1016 None gnomAD-4.0.0 3.09866E-06
31990 82 V/L 113 rs727503541 0.6062 None gnomAD-2.1.1 7.14E-06
31990 82 V/L 113 rs727503541 0.6062 None gnomAD-3.1.2 6.57E-06
31990 82 V/L 113 rs727503541 0.6062 None gnomAD-4.0.0 2.47879E-06
31990 82 V/M 113 rs727503541 0.6062 None gnomAD-2.1.1 3.21E-05
31990 82 V/M 113 rs727503541 0.6062 None gnomAD-3.1.2 1.97E-05
31990 82 V/M 113 rs727503541 0.6062 None gnomAD-4.0.0 4.02804E-05
31992 84 G/S 115 rs1360100058 0.2301 None gnomAD-2.1.1 4.02E-06
31992 84 G/S 115 rs1360100058 0.2301 None gnomAD-4.0.0 1.59137E-06
31993 85 M/I 117 rs749913152 0.3001 None gnomAD-2.1.1 8.05E-06
31993 85 M/I 117 rs749913152 0.3001 None gnomAD-4.0.0 6.84229E-07
31993 85 M/L 117 None 0.3001 None gnomAD-4.0.0 3.1827E-06
31994 86 S/N 118 rs1317294203 0.1104 None gnomAD-3.1.2 6.57E-06
31994 86 S/N 118 rs1317294203 0.1104 None gnomAD-4.0.0 6.57168E-06
31994 86 S/R 118 rs761895710 0.1104 None gnomAD-2.1.1 8.05E-06
31994 86 S/R 118 rs761895710 0.1104 None gnomAD-4.0.0 1.36846E-06
31995 87 E/K 119 rs776682000 0.8465 None gnomAD-2.1.1 2.01E-05
31995 87 E/K 119 rs776682000 0.8465 None gnomAD-3.1.2 1.31E-05
31995 87 E/K 119 rs776682000 0.8465 None gnomAD-4.0.0 1.67326E-05
31997 89 S/C 121 None 0.1313 None gnomAD-4.0.0 6.84264E-07
31997 89 S/G 121 rs763864462 0.1313 None gnomAD-2.1.1 2.42E-05
31997 89 S/G 121 rs763864462 0.1313 None gnomAD-4.0.0 6.84264E-06
31997 89 S/N 121 None 0.1313 None gnomAD-4.0.0 1.59162E-06
31998 90 E/A 122 rs1181902339 0.9168 None gnomAD-2.1.1 4.03E-06
31998 90 E/A 122 rs1181902339 0.9168 None gnomAD-4.0.0 3.18339E-06
31998 90 E/K 122 rs775585263 0.9168 None gnomAD-2.1.1 8.05E-06
31998 90 E/K 122 rs775585263 0.9168 None gnomAD-3.1.2 1.97E-05
31998 90 E/K 122 rs775585263 0.9168 None gnomAD-4.0.0 1.73542E-05
32000 92 I/L 124 None 0.2263 None gnomAD-4.0.0 6.8439E-07
32000 92 I/T 124 rs772265662 0.2263 None gnomAD-2.1.1 1.21E-05
32000 92 I/T 124 rs772265662 0.2263 None gnomAD-4.0.0 8.8972E-06
32000 92 I/V 124 rs769971164 0.2263 None gnomAD-3.1.2 6.57E-06
32000 92 I/V 124 rs769971164 0.2263 None gnomAD-4.0.0 1.17767E-05
32002 94 E/D 126 None 0.3964 None gnomAD-4.0.0 2.05345E-06
32003 95 I/N 127 rs745962752 0.2021 None gnomAD-4.0.0 2.1219E-05
32003 95 I/T 127 rs745962752 0.2021 None gnomAD-2.1.1 1.21E-05
32003 95 I/T 127 rs745962752 0.2021 None gnomAD-3.1.2 1.97E-05
32003 95 I/T 127 rs745962752 0.2021 None gnomAD-4.0.0 2.66564E-05
32005 97 P/S 130 None 0.1039 None gnomAD-4.0.0 1.20032E-06
32006 98 V/A 131 rs966964393 0.3599 None gnomAD-2.1.1 8.06E-06
32006 98 V/A 131 rs966964393 0.3599 None gnomAD-4.0.0 1.36941E-05
32006 98 V/M 131 rs191786700 0.3599 None gnomAD-2.1.1 1.96795E-04
32006 98 V/M 131 rs191786700 0.3599 None gnomAD-3.1.2 3.6139E-04
32006 98 V/M 131 rs191786700 0.3599 None 1000 genomes 9.98403E-04
32006 98 V/M 131 rs191786700 0.3599 None gnomAD-4.0.0 2.00904E-04
32007 99 E/D 132 rs569522219 0.4073 None gnomAD-2.1.1 4.03E-06
32007 99 E/D 132 rs569522219 0.4073 None gnomAD-3.1.2 6.57E-06
32007 99 E/D 132 rs569522219 0.4073 None 1000 genomes 1.99681E-04
32007 99 E/D 132 rs569522219 0.4073 None gnomAD-4.0.0 6.56521E-06
32007 99 E/G 132 rs1205390409 0.4073 None gnomAD-3.1.2 6.57E-06
32007 99 E/G 132 rs1205390409 0.4073 None gnomAD-4.0.0 6.57039E-06