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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
34942 1 P/T 1 None 0.1119 None gnomAD-4.0.0 1.59089E-06
34943 2 R/Q 2 rs780707238 0.2223 None gnomAD-2.1.1 8.03E-06
34943 2 R/Q 2 rs780707238 0.2223 None gnomAD-3.1.2 6.57E-06
34943 2 R/Q 2 rs780707238 0.2223 None gnomAD-4.0.0 5.57671E-06
34944 3 I/V 3 rs367770867 0.1523 None gnomAD-2.1.1 8.03E-06
34944 3 I/V 3 rs367770867 0.1523 None gnomAD-4.0.0 1.59089E-06
34946 5 L/R 5 rs1185207035 0.3882 None gnomAD-4.0.0 2.05242E-06
34947 6 R/K 7 None 0.2753 None gnomAD-4.0.0 1.59089E-06
34948 7 M/I 8 rs1248715319 0.0964 None gnomAD-2.1.1 4.01E-06
34948 7 M/I 8 rs1248715319 0.0964 None gnomAD-4.0.0 1.5909E-06
34948 7 M/T 8 None 0.0964 None gnomAD-4.0.0 1.20032E-06
34948 7 M/V 8 rs1313337141 0.0964 None gnomAD-2.1.1 4.01E-06
34948 7 M/V 8 rs1313337141 0.0964 None gnomAD-4.0.0 8.20968E-06
34949 8 R/C 9 rs576270358 0.4854 None gnomAD-2.1.1 2.81E-05
34949 8 R/C 9 rs576270358 0.4854 None gnomAD-3.1.2 1.97E-05
34949 8 R/C 9 rs576270358 0.4854 None 1000 genomes 1.99681E-04
34949 8 R/C 9 rs576270358 0.4854 None gnomAD-4.0.0 1.61093E-05
34949 8 R/H 9 rs375818056 0.4854 None gnomAD-2.1.1 1.2E-05
34949 8 R/H 9 rs375818056 0.4854 None gnomAD-3.1.2 6.57E-06
34949 8 R/H 9 rs375818056 0.4854 None gnomAD-4.0.0 7.43522E-06
34949 8 R/P 9 None 0.4854 None gnomAD-4.0.0 6.8414E-07
34949 8 R/S 9 rs576270358 0.4854 None gnomAD-3.1.2 6.57E-06
34949 8 R/S 9 rs576270358 0.4854 None gnomAD-4.0.0 6.57142E-06
34950 9 S/L 11 rs762789368 0.3408 None gnomAD-2.1.1 1.07E-05
34950 9 S/L 11 rs762789368 0.3408 None gnomAD-3.1.2 1.97E-05
34950 9 S/L 11 rs762789368 0.3408 None gnomAD-4.0.0 6.4043E-06
34952 11 R/S 14 rs765379292 0.1516 None gnomAD-2.1.1 4.01E-06
34952 11 R/S 14 rs765379292 0.1516 None gnomAD-4.0.0 3.18178E-06
34952 11 R/T 14 None 0.1516 None gnomAD-4.0.0 2.40064E-06
34953 12 V/I 16 rs776593972 0.1133 None gnomAD-2.1.1 4.01E-05
34953 12 V/I 16 rs776593972 0.1133 None gnomAD-4.0.0 8.20969E-06
34953 12 V/L 16 rs776593972 0.1133 None gnomAD-2.1.1 8.03E-06
34953 12 V/L 16 rs776593972 0.1133 None gnomAD-4.0.0 1.36828E-06
34954 13 P/L 18 rs1689198573 0.3135 None gnomAD-4.0.0 2.40064E-06
34954 13 P/S 18 None 0.3135 None gnomAD-4.0.0 1.59089E-06
34955 14 C/G 23 rs768740635 0.4988 None gnomAD-2.1.1 1.2E-05
34955 14 C/G 23 rs768740635 0.4988 None gnomAD-3.1.2 6.57E-06
34955 14 C/G 23 rs768740635 0.4988 None gnomAD-4.0.0 5.57664E-06
34955 14 C/S 23 None 0.4988 None gnomAD-4.0.0 6.84141E-07
34956 15 G/D 24 rs145748940 0.2026 None gnomAD-2.1.1 1.2E-05
34956 15 G/D 24 rs145748940 0.2026 None gnomAD-3.1.2 1.31E-05
34956 15 G/D 24 rs145748940 0.2026 None 1000 genomes 5.99042E-04
34956 15 G/D 24 rs145748940 0.2026 None gnomAD-4.0.0 3.71765E-06
34956 15 G/S 24 None 0.2026 None gnomAD-4.0.0 1.20032E-06
34960 19 R/C 29 rs772702110 0.4383 None gnomAD-2.1.1 2.41E-05
34960 19 R/C 29 rs772702110 0.4383 None gnomAD-3.1.2 1.31E-05
34960 19 R/C 29 rs772702110 0.4383 None gnomAD-4.0.0 2.16881E-05
34960 19 R/H 29 rs1352552140 0.4383 None gnomAD-3.1.2 6.57E-06
34960 19 R/H 29 rs1352552140 0.4383 None gnomAD-4.0.0 3.0983E-06
34960 19 R/P 29 rs1352552140 0.4383 None gnomAD-3.1.2 6.57E-06
34960 19 R/P 29 rs1352552140 0.4383 None gnomAD-4.0.0 6.57471E-06
34960 19 R/S 29 rs772702110 0.4383 None gnomAD-4.0.0 6.84141E-07
34961 20 F/L 30 rs934181908 0.1019 None gnomAD-4.0.0 6.8414E-06
34962 21 I/N 31 rs746239963 0.3569 None gnomAD-2.1.1 4.01E-06
34962 21 I/N 31 rs746239963 0.3569 None gnomAD-4.0.0 2.05242E-06
34964 23 N/K 34 None 0.2233 None gnomAD-4.0.0 1.59088E-06
34964 23 N/S 34 rs769356385 0.2233 None gnomAD-2.1.1 4.01E-06
34964 23 N/S 34 rs769356385 0.2233 None gnomAD-4.0.0 2.05242E-06
34964 23 N/Y 34 rs779363624 0.2233 None gnomAD-2.1.1 1.2E-05
34964 23 N/Y 34 rs779363624 0.2233 None gnomAD-4.0.0 7.95444E-06
34965 24 V/I 35 None 0.1371 None gnomAD-4.0.0 1.36828E-06
34965 24 V/L 35 rs886042785 0.1371 None gnomAD-2.1.1 1.07E-05
34965 24 V/L 35 rs886042785 0.1371 None gnomAD-3.1.2 4.6E-05
34965 24 V/L 35 rs886042785 0.1371 None gnomAD-4.0.0 7.43553E-06
34966 25 Q/H 38 rs1689181377 0.2853 None gnomAD-4.0.0 1.59088E-06
34966 25 Q/P 38 rs1225108277 0.2853 None gnomAD-2.1.1 4.01E-06
34966 25 Q/P 38 rs1225108277 0.2853 None gnomAD-4.0.0 2.05242E-06
34966 25 Q/R 38 rs1225108277 0.2853 None gnomAD-4.0.0 1.36828E-06
34968 27 K/E 41 None 0.1631 None gnomAD-4.0.0 1.59088E-06
34968 27 K/N 41 rs1274496471 0.1631 None gnomAD-2.1.1 4.01E-06
34968 27 K/N 41 rs1274496471 0.1631 None gnomAD-4.0.0 2.73656E-06
34969 28 P/R 42 rs2154133728 0.1961 None gnomAD-4.0.0 4.77268E-06
34969 28 P/T 42 rs1256480602 0.1961 None gnomAD-3.1.2 6.57E-06
34969 28 P/T 42 rs1256480602 0.1961 None gnomAD-4.0.0 6.57194E-06
34970 29 T/A 43 None 0.4984 None gnomAD-4.0.0 1.20032E-06
34970 29 T/I 43 None 0.4984 None gnomAD-4.0.0 1.20032E-06
34970 29 T/S 43 None 0.4984 None gnomAD-4.0.0 1.20032E-06
34971 30 A/V 44 rs1419052992 0.1609 None gnomAD-2.1.1 3.18E-05
34971 30 A/V 44 rs1419052992 0.1609 None gnomAD-3.1.2 3.94E-05
34971 30 A/V 44 rs1419052992 0.1609 None gnomAD-4.0.0 5.57668E-06
34972 31 E/A 45 None 0.3988 None gnomAD-4.0.0 1.59089E-06
34972 31 E/K 45 rs727504918 0.3988 None gnomAD-2.1.1 2.41E-05
34972 31 E/K 45 rs727504918 0.3988 None gnomAD-3.1.2 1.97E-05
34972 31 E/K 45 rs727504918 0.3988 None gnomAD-4.0.0 3.96564E-05
34975 34 W/L 48 None 0.1170 None gnomAD-4.0.0 6.84141E-07
34975 34 W/R 48 None 0.1170 None gnomAD-4.0.0 1.59089E-06
34975 34 W/S 48 rs1181086213 0.1170 None gnomAD-4.0.0 1.36828E-06
34976 35 Y/H 49 None 0.1583 None gnomAD-4.0.0 1.5909E-06
34977 36 H/Q 50 None 0.1169 None gnomAD-4.0.0 1.59089E-06
34978 37 N/D 51 rs1343194230 0.2763 None gnomAD-2.1.1 4.01E-06
34978 37 N/D 51 rs1343194230 0.2763 None gnomAD-4.0.0 3.18182E-06
34978 37 N/S 51 rs780028847 0.2763 None gnomAD-2.1.1 2.01E-05
34978 37 N/S 51 rs780028847 0.2763 None gnomAD-3.1.2 6.57E-06
34978 37 N/S 51 rs780028847 0.2763 None gnomAD-4.0.0 6.1961E-06
34979 38 G/A 52 rs376634193 0.3048 None gnomAD-2.1.1 8.91E-05
34979 38 G/A 52 rs376634193 0.3048 None gnomAD-3.1.2 1.44587E-04
34979 38 G/A 52 rs376634193 0.3048 None gnomAD-4.0.0 1.30744E-04
34979 38 G/D 52 rs376634193 0.3048 None gnomAD-4.0.0 4.10485E-06
34981 40 E/Q 56 None 0.2507 None gnomAD-4.0.0 1.20032E-06
34984 43 E/D 70 rs1434654451 0.3611 None gnomAD-3.1.2 1.31E-05
34984 43 E/D 70 rs1434654451 0.3611 None gnomAD-4.0.0 8.0552E-06
34985 44 S/G 73 rs765030518 0.2804 None gnomAD-2.1.1 2.41E-05
34985 44 S/G 73 rs765030518 0.2804 None gnomAD-4.0.0 2.3945E-05
34988 47 I/L 121 rs1420224634 0.1071 None gnomAD-2.1.1 4.01E-06
34988 47 I/L 121 rs1420224634 0.1071 None gnomAD-4.0.0 6.84143E-07
34988 47 I/N 121 None 0.1071 None gnomAD-4.0.0 4.77271E-06
34988 47 I/V 121 None 0.1071 None gnomAD-4.0.0 2.05243E-06
34989 48 H/R 122 rs1187175097 0.3116 None gnomAD-2.1.1 8.03E-06
34989 48 H/R 122 rs1187175097 0.3116 None gnomAD-3.1.2 6.57E-06
34989 48 H/R 122 rs1187175097 0.3116 None gnomAD-4.0.0 5.57655E-06
34991 50 T/A 125 rs764200285 0.3810 None gnomAD-2.1.1 4.01E-06
34991 50 T/A 125 rs764200285 0.3810 None gnomAD-4.0.0 4.77271E-06
34991 50 T/I 125 None 0.3810 None gnomAD-4.0.0 1.59091E-06
34992 51 N/K 127 None 0.2588 None gnomAD-4.0.0 1.59091E-06
34993 52 T/M 130 rs368945564 0.4878 None gnomAD-2.1.1 5.22E-05
34993 52 T/M 130 rs368945564 0.4878 None gnomAD-3.1.2 4.6E-05
34993 52 T/M 130 rs368945564 0.4878 None gnomAD-4.0.0 9.72742E-05
34993 52 T/R 130 None 0.4878 None gnomAD-4.0.0 6.84147E-07
34994 53 S/N 131 rs774081159 0.6385 None gnomAD-2.1.1 8.03E-06
34994 53 S/N 131 rs774081159 0.6385 None gnomAD-4.0.0 3.42073E-06
34996 55 V/A 135 rs2154133672 0.2937 None gnomAD-4.0.0 3.18178E-06
34996 55 V/F 135 rs772718460 0.2937 None gnomAD-2.1.1 6.37E-05
34996 55 V/F 135 rs772718460 0.2937 None gnomAD-3.1.2 1.97E-05
34996 55 V/F 135 rs772718460 0.2937 None gnomAD-4.0.0 2.47847E-06
34996 55 V/I 135 rs772718460 0.2937 None gnomAD-2.1.1 4.02E-06
34996 55 V/I 135 rs772718460 0.2937 None gnomAD-4.0.0 4.78898E-06
34997 56 L/V 136 rs771364302 0.1056 None gnomAD-2.1.1 7.13E-05
34997 56 L/V 136 rs771364302 0.1056 None gnomAD-3.1.2 6.57E-06
34997 56 L/V 136 rs771364302 0.1056 None gnomAD-4.0.0 1.17729E-05
34998 57 T/A 137 None 0.1807 None gnomAD-4.0.0 1.59091E-06
34998 57 T/I 137 rs397517794 0.1807 None gnomAD-4.0.0 3.1818E-06
34998 57 T/N 137 rs397517794 0.1807 None gnomAD-4.0.0 1.5909E-06
34999 58 L/V 138 rs727503532 0.0720 None gnomAD-2.1.1 3.19E-05
34999 58 L/V 138 rs727503532 0.0720 None gnomAD-3.1.2 1.31E-05
34999 58 L/V 138 rs727503532 0.0720 None gnomAD-4.0.0 3.09815E-06
35000 59 E/D 139 rs866303280 0.1712 None gnomAD-4.0.0 3.1818E-06
35000 59 E/G 139 None 0.1712 None gnomAD-4.0.0 1.5909E-06
35003 62 D/A 143 None 0.2331 None gnomAD-4.0.0 1.20032E-06
35003 62 D/N 143 None 0.2331 None gnomAD-4.0.0 1.20032E-06
35003 62 D/Y 143 None 0.2331 None gnomAD-4.0.0 1.20032E-06
35005 64 H/L 145 rs1405155158 0.3012 None gnomAD-2.1.1 4.02E-06
35005 64 H/L 145 rs1405155158 0.3012 None gnomAD-4.0.0 1.5909E-06
35005 64 H/Y 145 rs116876353 0.3012 None gnomAD-3.1.2 6.57E-06
35005 64 H/Y 145 rs116876353 0.3012 None 1000 genomes 1.99681E-04
35005 64 H/Y 145 rs116876353 0.3012 None gnomAD-4.0.0 6.56564E-06
35007 66 D/Y 148 None 0.2939 None gnomAD-4.0.0 1.5909E-06
35008 67 D/N 149 rs1238039888 0.1700 None gnomAD-2.1.1 2.54712E-04
35008 67 D/N 149 rs1238039888 0.1700 None gnomAD-3.1.2 3.29E-05
35008 67 D/N 149 rs1238039888 0.1700 None gnomAD-4.0.0 8.0553E-06
35009 68 S/G 151 rs1689133557 0.1448 None gnomAD-3.1.2 1.31E-05
35009 68 S/G 151 rs1689133557 0.1448 None gnomAD-4.0.0 1.31403E-05
35009 68 S/I 151 None 0.1448 None gnomAD-4.0.0 2.40064E-06
35011 70 T/A 153 rs533966614 0.2183 None gnomAD-2.1.1 4.02E-06
35011 70 T/A 153 rs533966614 0.2183 None gnomAD-3.1.2 6.57E-06
35011 70 T/A 153 rs533966614 0.2183 None 1000 genomes 1.99681E-04
35011 70 T/A 153 rs533966614 0.2183 None gnomAD-4.0.0 3.71752E-06
35012 71 Y/H 154 None 0.0946 None gnomAD-4.0.0 1.20032E-06
35013 72 R/C 155 rs568460311 0.2101 None gnomAD-2.1.1 9.27E-05
35013 72 R/C 155 rs568460311 0.2101 None gnomAD-3.1.2 9.2E-05
35013 72 R/C 155 rs568460311 0.2101 None 1000 genomes 1.99681E-04
35013 72 R/C 155 rs568460311 0.2101 None gnomAD-4.0.0 3.65566E-05
35013 72 R/H 155 rs779484675 0.2101 None gnomAD-2.1.1 3.21E-05
35013 72 R/H 155 rs779484675 0.2101 None gnomAD-3.1.2 1.31E-05
35013 72 R/H 155 rs779484675 0.2101 None gnomAD-4.0.0 2.85035E-05
35013 72 R/P 155 None 0.2101 None gnomAD-3.1.2 6.57E-06
35013 72 R/P 155 None 0.2101 None gnomAD-4.0.0 6.57237E-06
35013 72 R/S 155 rs568460311 0.2101 None gnomAD-2.1.1 4.02E-06
35013 72 R/S 155 rs568460311 0.2101 None gnomAD-4.0.0 1.3683E-06
35014 73 A/D 156 rs758356886 0.0887 None gnomAD-2.1.1 2.5E-05
35014 73 A/D 156 rs758356886 0.0887 None gnomAD-3.1.2 6.57E-06
35014 73 A/D 156 rs758356886 0.0887 None gnomAD-4.0.0 1.11533E-05
35015 74 V/A 157 None 0.1555 None gnomAD-4.0.0 1.59091E-06
35017 76 T/A 159 rs368779151 0.2203 None gnomAD-2.1.1 2.5E-05
35017 76 T/A 159 rs368779151 0.2203 None gnomAD-3.1.2 1.97E-05
35017 76 T/A 159 rs368779151 0.2203 None 1000 genomes 3.99361E-04
35017 76 T/A 159 rs368779151 0.2203 None gnomAD-4.0.0 8.67418E-06
35017 76 T/I 159 None 0.2203 None gnomAD-4.0.0 1.20032E-06
35020 79 K/E 163 rs1689123371 0.2238 None gnomAD-3.1.2 6.57E-06
35020 79 K/E 163 rs1689123371 0.2238 None gnomAD-4.0.0 6.57263E-06
35020 79 K/R 163 rs1178732521 0.2238 None gnomAD-3.1.2 6.57E-06
35020 79 K/R 163 rs1178732521 0.2238 None gnomAD-4.0.0 6.57125E-06
35020 79 K/T 163 rs1178732521 0.2238 None gnomAD-2.1.1 4.02E-06
35020 79 K/T 163 rs1178732521 0.2238 None gnomAD-4.0.0 1.59094E-06
35021 80 G/S 164 rs1454215134 0.1242 None gnomAD-4.0.0 1.20032E-06
35022 81 E/K 165 rs727504977 0.3475 None gnomAD-2.1.1 4.02E-06
35022 81 E/K 165 rs727504977 0.3475 None gnomAD-3.1.2 1.31E-05
35022 81 E/K 165 rs727504977 0.3475 None gnomAD-4.0.0 5.57677E-06
35023 82 A/V 166 None 0.1332 None gnomAD-4.0.0 2.05246E-06
35024 83 S/A 168 rs764381474 0.2139 None gnomAD-2.1.1 4.02E-06
35024 83 S/A 168 rs764381474 0.2139 None gnomAD-4.0.0 2.7366E-06
35024 83 S/T 168 None 0.2139 None gnomAD-4.0.0 6.84149E-07
35026 85 Y/C 171 rs757648598 0.4061 None gnomAD-2.1.1 4.02E-06
35026 85 Y/C 171 rs757648598 0.4061 None gnomAD-3.1.2 1.31E-05
35026 85 Y/C 171 rs757648598 0.4061 None gnomAD-4.0.0 7.43567E-06
35027 86 A/T 172 rs767662721 0.0936 None gnomAD-2.1.1 4.02E-06
35027 86 A/T 172 rs767662721 0.0936 None gnomAD-4.0.0 6.84159E-07
35028 87 T/M 173 rs56001826 0.3545 None gnomAD-2.1.1 4.02E-06
35028 87 T/M 173 rs56001826 0.3545 None gnomAD-3.1.2 1.31E-05
35028 87 T/M 173 rs56001826 0.3545 None gnomAD-4.0.0 5.57693E-06
35029 88 L/W 174 rs763437247 0.0945 None gnomAD-2.1.1 4.02E-06
35029 88 L/W 174 rs763437247 0.0945 None gnomAD-3.1.2 6.57E-06
35029 88 L/W 174 rs763437247 0.0945 None gnomAD-4.0.0 5.07475E-06
35030 89 D/E 175 rs72629789 0.4843 None gnomAD-2.1.1 4.02E-06
35030 89 D/E 175 rs72629789 0.4843 None gnomAD-4.0.0 6.84177E-07
35030 89 D/G 175 rs773386284 0.4843 None gnomAD-2.1.1 8.03E-06
35030 89 D/G 175 rs773386284 0.4843 None gnomAD-3.1.2 6.57E-06
35030 89 D/G 175 rs773386284 0.4843 None gnomAD-4.0.0 4.33747E-06
35030 89 D/H 175 None 0.4843 None gnomAD-4.0.0 6.84167E-07
35030 89 D/N 175 rs1689108955 0.4843 None gnomAD-3.1.2 6.57E-06
35030 89 D/N 175 rs1689108955 0.4843 None gnomAD-4.0.0 4.95718E-06
35031 90 V/L 177 None 0.1477 None gnomAD-4.0.0 6.84169E-07
35031 90 V/M 177 rs552058608 0.1477 None gnomAD-2.1.1 4.99E-05
35031 90 V/M 177 rs552058608 0.1477 None gnomAD-3.1.2 8.54E-05
35031 90 V/M 177 rs552058608 0.1477 None 1000 genomes 1.99681E-04
35031 90 V/M 177 rs552058608 0.1477 None gnomAD-4.0.0 3.77954E-05