Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26880 1 P/S 1 None 0.2341 None gnomAD-4.0.0 1.59212E-06
26883 4 K/N 4 None 0.6598 None gnomAD-4.0.0 1.59254E-06
26885 6 P/L 7 rs1208813595 0.3694 None gnomAD-2.1.1 4.03E-06
26885 6 P/L 7 rs1208813595 0.3694 None gnomAD-4.0.0 1.59264E-06
26885 6 P/T 7 rs1305213635 0.3694 None gnomAD-3.1.2 6.58E-06
26885 6 P/T 7 rs1305213635 0.3694 None gnomAD-4.0.0 9.91942E-06
26886 7 F/L 8 rs1373580464 0.6149 None gnomAD-2.1.1 1.61E-05
26886 7 F/L 8 rs1373580464 0.6149 None gnomAD-3.1.2 3.29E-05
26886 7 F/L 8 rs1373580464 0.6149 None gnomAD-4.0.0 4.95921E-06
26888 9 T/I 11 None 0.4131 None gnomAD-4.0.0 1.20032E-06
26889 10 Y/C 13 rs571328201 0.1844 None gnomAD-2.1.1 1.17934E-04
26889 10 Y/C 13 rs571328201 0.1844 None gnomAD-3.1.2 1.24913E-04
26889 10 Y/C 13 rs571328201 0.1844 None gnomAD-4.0.0 1.20255E-04
26889 10 Y/F 13 rs571328201 0.1844 None gnomAD-2.1.1 4.03E-06
26889 10 Y/F 13 rs571328201 0.1844 None gnomAD-4.0.0 2.73761E-06
26890 11 S/N 14 rs766880487 0.5125 None gnomAD-2.1.1 1.07E-05
26890 11 S/N 14 rs766880487 0.5125 None gnomAD-3.1.2 1.32E-05
26890 11 S/N 14 rs766880487 0.5125 None gnomAD-4.0.0 7.43908E-06
26893 14 A/G 23 rs1273776382 0.4220 None gnomAD-3.1.2 6.58E-06
26893 14 A/G 23 rs1273776382 0.4220 None gnomAD-4.0.0 2.56383E-06
26894 15 G/A 24 rs928657933 0.3781 None gnomAD-3.1.2 6.58E-06
26894 15 G/A 24 rs928657933 0.3781 None gnomAD-4.0.0 1.85971E-06
26894 15 G/E 24 None 0.3781 None gnomAD-4.0.0 6.84418E-07
26895 16 E/D 25 None 0.4068 None gnomAD-4.0.0 2.05321E-06
26895 16 E/K 25 None 0.4068 None gnomAD-4.0.0 3.422E-06
26896 17 D/E 26 None 0.5053 None gnomAD-4.0.0 1.20032E-06
26896 17 D/V 26 rs1705407272 0.5053 None gnomAD-4.0.0 7.96135E-06
26896 17 D/Y 26 rs1327329522 0.5053 None gnomAD-2.1.1 4.03E-06
26896 17 D/Y 26 rs1327329522 0.5053 None gnomAD-3.1.2 6.58E-06
26896 17 D/Y 26 rs1327329522 0.5053 None gnomAD-4.0.0 2.56396E-06
26897 18 L/P 28 rs754480353 0.2048 None gnomAD-2.1.1 4.03E-06
26897 18 L/P 28 rs754480353 0.2048 None gnomAD-3.1.2 1.31E-05
26897 18 L/P 28 rs754480353 0.2048 None gnomAD-4.0.0 7.69039E-06
26898 19 K/N 29 rs372650410 0.4219 None gnomAD-4.0.0 1.59222E-06
26899 20 I/R 30 None 0.1114 None gnomAD-4.0.0 1.20032E-06
26900 21 E/D 31 rs751557221 0.3958 None gnomAD-2.1.1 4.03E-06
26900 21 E/D 31 rs751557221 0.3958 None gnomAD-3.1.2 6.58E-06
26900 21 E/D 31 rs751557221 0.3958 None gnomAD-4.0.0 2.56345E-06
26901 22 I/L 33 None 0.1173 None gnomAD-4.0.0 6.84347E-07
26901 22 I/V 33 rs201562505 0.1173 None gnomAD-2.1.1 1.49395E-03
26901 22 I/V 33 rs201562505 0.1173 None gnomAD-3.1.2 9.92898E-04
26901 22 I/V 33 rs201562505 0.1173 None gnomAD-4.0.0 9.26589E-04
26902 23 P/L 34 rs1287537055 0.3122 None gnomAD-2.1.1 3.19E-05
26902 23 P/L 34 rs1287537055 0.3122 None gnomAD-3.1.2 6.58E-06
26902 23 P/L 34 rs1287537055 0.3122 None gnomAD-4.0.0 2.56393E-06
26902 23 P/S 34 rs1024262797 0.3122 None gnomAD-2.1.1 7.15E-06
26902 23 P/S 34 rs1024262797 0.3122 None gnomAD-3.1.2 6.58E-06
26902 23 P/S 34 rs1024262797 0.3122 None gnomAD-4.0.0 1.17778E-05
26903 24 V/I 35 rs1559341049 0.2191 None gnomAD-2.1.1 4.02E-06
26903 24 V/I 35 rs1559341049 0.2191 None gnomAD-4.0.0 4.79048E-06
26904 25 I/M 38 rs773395582 0.6517 None gnomAD-2.1.1 2.01E-05
26904 25 I/M 38 rs773395582 0.6517 None gnomAD-3.1.2 1.31E-05
26904 25 I/M 38 rs773395582 0.6517 None gnomAD-4.0.0 3.65691E-05
26904 25 I/T 38 rs991499250 0.6517 None gnomAD-3.1.2 6.57E-06
26904 25 I/T 38 rs991499250 0.6517 None gnomAD-4.0.0 6.57367E-06
26905 26 G/R 40 rs772844758 0.2431 None gnomAD-2.1.1 4.02E-06
26905 26 G/R 40 rs772844758 0.2431 None gnomAD-4.0.0 1.59195E-06
26905 26 G/S 40 rs772844758 0.2431 None gnomAD-2.1.1 3.19E-05
26905 26 G/S 40 rs772844758 0.2431 None gnomAD-3.1.2 6.58E-06
26905 26 G/S 40 rs772844758 0.2431 None gnomAD-4.0.0 6.40897E-06
26906 27 R/Q 41 rs536183519 0.7426 None gnomAD-2.1.1 2.86E-05
26906 27 R/Q 41 rs536183519 0.7426 None gnomAD-3.1.2 2.63E-05
26906 27 R/Q 41 rs536183519 0.7426 None 1000 genomes 1.99681E-04
26906 27 R/Q 41 rs536183519 0.7426 None gnomAD-4.0.0 1.85953E-05
26907 28 P/Q 42 rs375693686 0.5034 None gnomAD-2.1.1 2.14E-05
26907 28 P/Q 42 rs375693686 0.5034 None gnomAD-3.1.2 5.26E-05
26907 28 P/Q 42 rs375693686 0.5034 None gnomAD-4.0.0 1.1157E-05
26907 28 P/S 42 None 0.5034 None gnomAD-4.0.0 1.36865E-06
26907 28 P/T 42 rs776780869 0.5034 None gnomAD-2.1.1 4.02E-06
26907 28 P/T 42 rs776780869 0.5034 None gnomAD-4.0.0 1.36865E-06
26909 30 P/L 44 rs1553581878 0.1459 None gnomAD-3.1.2 6.58E-06
26909 30 P/L 44 rs1553581878 0.1459 None gnomAD-4.0.0 6.57609E-06
26910 31 N/D 45 rs1456879074 0.7233 None gnomAD-2.1.1 4.02E-06
26910 31 N/D 45 rs1456879074 0.7233 None gnomAD-4.0.0 1.59173E-06
26911 32 I/M 46 rs371965190 0.2158 None gnomAD-2.1.1 1.43E-05
26911 32 I/M 46 rs371965190 0.2158 None gnomAD-3.1.2 3.94E-05
26911 32 I/M 46 rs371965190 0.2158 None gnomAD-4.0.0 9.29593E-06
26911 32 I/V 46 rs1017295644 0.2158 None gnomAD-4.0.0 1.20032E-06
26912 33 S/Y 47 rs1198056349 0.4070 None gnomAD-2.1.1 4.02E-06
26912 33 S/Y 47 rs1198056349 0.4070 None gnomAD-4.0.0 1.59171E-06
26913 34 W/S 48 rs1705368893 0.2037 None gnomAD-3.1.2 6.58E-06
26913 34 W/S 48 rs1705368893 0.2037 None gnomAD-4.0.0 6.57601E-06
26914 35 V/F 49 None 0.2128 None gnomAD-4.0.0 2.40064E-06
26918 39 E/K 55 None 0.5766 None gnomAD-4.0.0 1.20032E-06
26919 40 P/T 56 rs879200886 0.6304 None gnomAD-3.1.2 2.63E-05
26919 40 P/T 56 rs879200886 0.6304 None gnomAD-4.0.0 2.63103E-05
26920 41 L/H 58 None 0.2349 None gnomAD-4.0.0 2.73712E-06
26920 41 L/V 58 rs368431158 0.2349 None gnomAD-2.1.1 8.04E-06
26920 41 L/V 58 rs368431158 0.2349 None gnomAD-4.0.0 6.00161E-06
26923 44 T/I 73 None 0.3860 None gnomAD-4.0.0 1.36857E-06
26923 44 T/K 73 rs2154164717 0.3860 None gnomAD-4.0.0 6.84284E-07
26924 45 T/P 109 None 1.0006 None gnomAD-4.0.0 1.36855E-06
26925 46 R/G 115 rs373948797 0.1843 None gnomAD-2.1.1 4.02E-06
26925 46 R/G 115 rs373948797 0.1843 None gnomAD-3.1.2 6.57E-06
26925 46 R/G 115 rs373948797 0.1843 None gnomAD-4.0.0 6.5735E-06
26925 46 R/K 115 rs748215561 0.1843 None gnomAD-2.1.1 2.01E-05
26925 46 R/K 115 rs748215561 0.1843 None gnomAD-3.1.2 1.32E-05
26925 46 R/K 115 rs748215561 0.1843 None gnomAD-4.0.0 1.79736E-05
26926 47 V/L 121 rs769499232 0.1623 None gnomAD-2.1.1 2.82E-05
26926 47 V/L 121 rs769499232 0.1623 None gnomAD-3.1.2 1.32E-05
26926 47 V/L 121 rs769499232 0.1623 None gnomAD-4.0.0 8.05718E-06
26928 49 V/A 123 rs879215836 0.2089 None gnomAD-4.0.0 6.36647E-06
26928 49 V/I 123 rs780885076 0.2089 None gnomAD-2.1.1 2.01E-05
26928 49 V/I 123 rs780885076 0.2089 None gnomAD-3.1.2 1.31E-05
26928 49 V/I 123 rs780885076 0.2089 None gnomAD-4.0.0 1.17757E-05
26928 49 V/L 123 None 0.2089 None gnomAD-4.0.0 2.73711E-06
26929 50 E/K 125 rs878894717 0.4497 None gnomAD-3.1.2 2.63E-05
26929 50 E/K 125 rs878894717 0.4497 None gnomAD-4.0.0 2.62961E-05
26930 51 E/A 127 None 0.4510 None gnomAD-4.0.0 1.59158E-06
26930 51 E/K 127 rs370511450 0.4510 None gnomAD-2.1.1 4.02E-06
26930 51 E/K 127 rs370511450 0.4510 None gnomAD-3.1.2 1.32E-05
26930 51 E/K 127 rs370511450 0.4510 None gnomAD-4.0.0 5.57803E-06
26931 52 T/A 130 rs1397026912 0.3256 None gnomAD-2.1.1 4.02E-06
26931 52 T/A 130 rs1397026912 0.3256 None gnomAD-3.1.2 6.57E-06
26931 52 T/A 130 rs1397026912 0.3256 None gnomAD-4.0.0 8.05682E-06
26931 52 T/I 130 None 0.3256 None gnomAD-4.0.0 6.84272E-06
26933 54 T/I 134 None 0.6672 None gnomAD-4.0.0 1.59156E-06
26933 54 T/N 134 rs1418023891 0.6672 None gnomAD-3.1.2 6.58E-06
26933 54 T/N 134 rs1418023891 0.6672 None gnomAD-4.0.0 6.57566E-06
26933 54 T/P 134 None 0.6672 None gnomAD-4.0.0 3.18317E-06
26935 56 T/A 136 None 0.1370 None gnomAD-4.0.0 1.20032E-06
26938 59 H/P 139 None 0.2957 None gnomAD-4.0.0 1.59155E-06
26938 59 H/Q 139 rs1173826868 0.2957 None gnomAD-2.1.1 8.05E-06
26938 59 H/Q 139 rs1173826868 0.2957 None gnomAD-4.0.0 6.84268E-07
26939 60 I/N 140 rs1705331466 0.1205 None gnomAD-4.0.0 1.36853E-06
26939 60 I/T 140 rs1705331466 0.1205 None gnomAD-3.1.2 6.58E-06
26939 60 I/T 140 rs1705331466 0.1205 None gnomAD-4.0.0 3.71873E-06
26940 61 K/I 141 rs373713790 0.5581 None gnomAD-3.1.2 1.32E-05
26940 61 K/I 141 rs373713790 0.5581 None gnomAD-4.0.0 2.47908E-06
26942 63 G/A 144 rs754062150 0.1468 None gnomAD-2.1.1 4.03E-06
26942 63 G/A 144 rs754062150 0.1468 None gnomAD-4.0.0 6.84265E-07
26942 63 G/V 144 rs754062150 0.1468 None gnomAD-2.1.1 4.03E-06
26942 63 G/V 144 rs754062150 0.1468 None gnomAD-4.0.0 6.84265E-07
26944 65 K/E 146 rs1199099522 0.6538 None gnomAD-2.1.1 4.03E-06
26944 65 K/E 146 rs1199099522 0.6538 None gnomAD-4.0.0 3.1831E-06
26945 66 D/Y 148 None 0.6017 None gnomAD-4.0.0 3.60097E-06
26946 67 D/V 149 rs1705319606 0.1429 None gnomAD-3.1.2 6.57E-06
26946 67 D/V 149 rs1705319606 0.1429 None gnomAD-4.0.0 6.57419E-06
26946 67 D/Y 149 rs571011004 0.1429 None gnomAD-2.1.1 1.21E-05
26946 67 D/Y 149 rs571011004 0.1429 None gnomAD-3.1.2 1.31E-05
26946 67 D/Y 149 rs571011004 0.1429 None 1000 genomes 1.99681E-04
26946 67 D/Y 149 rs571011004 0.1429 None gnomAD-4.0.0 2.4789E-06
26949 70 K/I 153 rs775669416 0.4234 None gnomAD-2.1.1 4.03E-06
26949 70 K/I 153 rs775669416 0.4234 None gnomAD-3.1.2 6.57E-06
26949 70 K/I 153 rs775669416 0.4234 None gnomAD-4.0.0 3.04492E-06
26950 71 Y/H 154 rs1705314852 0.1243 None gnomAD-4.0.0 9.54949E-06
26951 72 T/I 155 None 0.2153 None gnomAD-4.0.0 1.20032E-06
26951 72 T/N 155 None 0.2153 None gnomAD-4.0.0 1.20032E-06
26952 73 V/I 156 rs371362606 0.0942 None gnomAD-2.1.1 7.15E-05
26952 73 V/I 156 rs371362606 0.0942 None gnomAD-3.1.2 1.05212E-04
26952 73 V/I 156 rs371362606 0.0942 None gnomAD-4.0.0 6.94099E-05
26952 73 V/L 156 rs371362606 0.0942 None gnomAD-2.1.1 4.03E-06
26952 73 V/L 156 rs371362606 0.0942 None gnomAD-3.1.2 1.32E-05
26952 73 V/L 156 rs371362606 0.0942 None gnomAD-4.0.0 1.92131E-05
26953 74 T/M 157 rs377506142 0.2176 None gnomAD-2.1.1 8.19021E-04
26953 74 T/M 157 rs377506142 0.2176 None gnomAD-3.1.2 2.43367E-04
26953 74 T/M 157 rs377506142 0.2176 None 1000 genomes 1.59744E-03
26953 74 T/M 157 rs377506142 0.2176 None gnomAD-4.0.0 4.00976E-04
26953 74 T/R 157 rs377506142 0.2176 None gnomAD-2.1.1 4.03E-06
26953 74 T/R 157 rs377506142 0.2176 None gnomAD-4.0.0 3.42134E-06
26954 75 A/T 158 None 0.0871 None gnomAD-4.0.0 4.77479E-06
26955 76 T/A 159 rs1336289056 0.3600 None gnomAD-2.1.1 4.03E-06
26955 76 T/A 159 rs1336289056 0.3600 None gnomAD-4.0.0 1.59155E-06
26955 76 T/I 159 rs376947367 0.3600 None gnomAD-2.1.1 4.03E-06
26955 76 T/I 159 rs376947367 0.3600 None gnomAD-4.0.0 1.59157E-06
26956 77 N/D 161 None 0.1444 None gnomAD-4.0.0 1.59154E-06
26957 78 S/N 162 None 0.7243 None gnomAD-4.0.0 1.59154E-06
26958 79 A/S 163 None 0.6569 None gnomAD-4.0.0 1.59155E-06
26958 79 A/V 163 None 0.6569 None gnomAD-4.0.0 1.20032E-06
26959 80 G/D 164 rs768259414 0.2788 None gnomAD-2.1.1 4.03E-06
26959 80 G/D 164 rs768259414 0.2788 None gnomAD-4.0.0 1.36854E-06
26960 81 T/I 165 rs746547418 0.4596 None gnomAD-2.1.1 4.03E-06
26960 81 T/I 165 rs746547418 0.4596 None gnomAD-4.0.0 6.84264E-07
26960 81 T/R 165 rs746547418 0.4596 None gnomAD-4.0.0 6.84264E-07
26961 82 A/E 166 rs749194310 0.1870 None gnomAD-2.1.1 8.06E-06
26961 82 A/E 166 rs749194310 0.1870 None gnomAD-3.1.2 6.57E-06
26961 82 A/E 166 rs749194310 0.1870 None gnomAD-4.0.0 2.47909E-06
26961 82 A/T 166 rs779484612 0.1870 None gnomAD-2.1.1 2.42E-05
26961 82 A/T 166 rs779484612 0.1870 None gnomAD-3.1.2 6.57E-06
26961 82 A/T 166 rs779484612 0.1870 None gnomAD-4.0.0 6.19765E-06
26961 82 A/V 166 rs749194310 0.1870 None gnomAD-2.1.1 6.44E-05
26961 82 A/V 166 rs749194310 0.1870 None gnomAD-3.1.2 2.63E-05
26961 82 A/V 166 rs749194310 0.1870 None gnomAD-4.0.0 2.31795E-04
26962 83 T/A 168 None 0.3757 None gnomAD-4.0.0 1.36855E-06
26962 83 T/I 168 rs778900963 0.3757 None gnomAD-2.1.1 4.03E-06
26962 83 T/I 168 rs778900963 0.3757 None gnomAD-4.0.0 1.36855E-06
26963 84 E/D 169 rs1705288214 0.3591 None gnomAD-3.1.2 6.58E-06
26963 84 E/D 169 rs1705288214 0.3591 None gnomAD-4.0.0 6.57514E-06
26963 84 E/Q 169 rs1705290908 0.3591 None gnomAD-3.1.2 6.57E-06
26963 84 E/Q 169 rs1705290908 0.3591 None gnomAD-4.0.0 6.57436E-06
26964 85 N/D 171 rs886055242 0.4534 None gnomAD-4.0.0 6.84281E-07
26964 85 N/H 171 None 0.4534 None gnomAD-4.0.0 6.84281E-07
26964 85 N/Y 171 None 0.4534 None gnomAD-4.0.0 1.36856E-06
26965 86 L/H 172 None 0.1186 None gnomAD-4.0.0 1.59166E-06
26965 86 L/V 172 rs1186366124 0.1186 None gnomAD-2.1.1 4.03E-06
26965 86 L/V 172 rs1186366124 0.1186 None gnomAD-4.0.0 1.59165E-06
26966 87 S/R 173 rs1705281282 0.2992 None gnomAD-4.0.0 3.85873E-05
26967 88 V/A 174 rs753639960 0.1301 None gnomAD-2.1.1 4.03E-06
26967 88 V/A 174 rs753639960 0.1301 None gnomAD-4.0.0 4.77496E-06
26967 88 V/I 174 rs1257567608 0.1301 None gnomAD-4.0.0 3.18332E-06
26968 89 I/N 175 rs369539943 0.3685 None gnomAD-2.1.1 4.03E-06
26968 89 I/N 175 rs369539943 0.3685 None gnomAD-4.0.0 1.36856E-06
26968 89 I/T 175 rs369539943 0.3685 None gnomAD-2.1.1 8.06E-06
26968 89 I/T 175 rs369539943 0.3685 None gnomAD-3.1.2 1.32E-05
26968 89 I/T 175 rs369539943 0.3685 None gnomAD-4.0.0 4.95829E-06
26969 90 V/I 177 rs377667066 0.2305 None gnomAD-2.1.1 6.44E-05
26969 90 V/I 177 rs377667066 0.2305 None gnomAD-3.1.2 4.6E-05
26969 90 V/I 177 rs377667066 0.2305 None gnomAD-4.0.0 4.9584E-05
26969 90 V/L 177 None 0.2305 None gnomAD-4.0.0 6.84288E-07