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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32795 1 S/R 1 rs373396567 0.4260 None gnomAD-2.1.1 6.8E-05
32795 1 S/R 1 rs373396567 0.4260 None gnomAD-3.1.2 1.64569E-04
32795 1 S/R 1 rs373396567 0.4260 None gnomAD-4.0.0 3.0991E-05
32796 2 P/A 2 rs1693423139 0.1189 None gnomAD-4.0.0 1.59158E-06
32796 2 P/L 2 None 0.1189 None gnomAD-4.0.0 8.89541E-06
32796 2 P/S 2 None 0.1189 None gnomAD-4.0.0 1.59158E-06
32797 3 N/K 3 None 0.5310 None gnomAD-4.0.0 6.84252E-07
32797 3 N/S 3 rs149001703 0.5310 None gnomAD-2.1.1 4.38233E-03
32797 3 N/S 3 rs149001703 0.5310 None gnomAD-3.1.2 4.97705E-03
32797 3 N/S 3 rs149001703 0.5310 None 1000 genomes 3.99361E-03
32797 3 N/S 3 rs149001703 0.5310 None gnomAD-4.0.0 5.94974E-03
32799 5 P/L 5 None 0.0947 None gnomAD-4.0.0 1.59151E-06
32800 6 E/K 6 None 0.3118 None gnomAD-4.0.0 1.08029E-05
32801 7 G/A 7 None 0.3748 None gnomAD-4.0.0 6.84241E-07
32801 7 G/E 7 None 0.3748 None gnomAD-4.0.0 1.36848E-06
32801 7 G/R 7 rs1351373936 0.3748 None gnomAD-2.1.1 4.03E-06
32801 7 G/R 7 rs1351373936 0.3748 None gnomAD-4.0.0 3.18283E-06
32802 8 P/T 8 rs1165279106 0.6265 None gnomAD-2.1.1 4.03E-06
32802 8 P/T 8 rs1165279106 0.6265 None gnomAD-3.1.2 6.57E-06
32802 8 P/T 8 rs1165279106 0.6265 None gnomAD-4.0.0 2.56264E-06
32803 9 L/P 9 None 0.1466 None gnomAD-4.0.0 1.59136E-06
32808 14 I/S 15 None 0.2374 None gnomAD-4.0.0 1.20032E-06
32808 14 I/T 15 rs1388284089 0.2374 None gnomAD-2.1.1 4.03E-06
32809 15 Q/H 16 rs1271415335 0.4219 None gnomAD-3.1.2 6.57E-06
32809 15 Q/H 16 rs1271415335 0.4219 None gnomAD-4.0.0 2.5622E-06
32809 15 Q/P 16 rs1060500398 0.4219 None gnomAD-2.1.1 3.19E-05
32809 15 Q/P 16 rs1060500398 0.4219 None gnomAD-3.1.2 6.57E-06
32809 15 Q/P 16 rs1060500398 0.4219 None gnomAD-4.0.0 3.09854E-06
32811 17 R/C 18 rs371807358 0.6804 None gnomAD-2.1.1 8.58E-05
32811 17 R/C 18 rs371807358 0.6804 None gnomAD-3.1.2 7.89E-05
32811 17 R/C 18 rs371807358 0.6804 None gnomAD-4.0.0 9.11005E-05
32811 17 R/H 18 rs751450347 0.6804 None gnomAD-2.1.1 2.82E-05
32811 17 R/H 18 rs751450347 0.6804 None gnomAD-3.1.2 1.97E-05
32811 17 R/H 18 rs751450347 0.6804 None gnomAD-4.0.0 1.36341E-05
32811 17 R/L 18 None 0.6804 None gnomAD-4.0.0 1.36847E-06
32812 18 S/P 19 None 0.1572 None gnomAD-4.0.0 8.40225E-06
32813 19 V/L 20 None 0.0892 None gnomAD-4.0.0 6.84202E-07
32813 19 V/M 20 rs1693400485 0.0892 None gnomAD-4.0.0 2.05261E-06
32814 20 R/K 21 rs1487649539 0.2926 None gnomAD-2.1.1 4.03E-06
32814 20 R/K 21 rs1487649539 0.2926 None gnomAD-4.0.0 6.84205E-07
32814 20 R/T 21 rs1487649539 0.2926 None gnomAD-2.1.1 4.03E-06
32814 20 R/T 21 rs1487649539 0.2926 None gnomAD-3.1.2 6.57E-06
32814 20 R/T 21 rs1487649539 0.2926 None gnomAD-4.0.0 1.85912E-06
32816 22 S/N 23 rs773294476 0.1694 None gnomAD-2.1.1 8.05E-06
32816 22 S/N 23 rs773294476 0.1694 None gnomAD-4.0.0 3.18246E-06
32818 24 R/K 25 rs794729551 0.3376 None gnomAD-2.1.1 3.19E-05
32818 24 R/K 25 rs794729551 0.3376 None gnomAD-3.1.2 1.97E-05
32818 24 R/K 25 rs794729551 0.3376 None gnomAD-4.0.0 5.12407E-06
32820 26 P/S 27 rs769919302 0.1581 None gnomAD-2.1.1 1.21E-05
32820 26 P/S 27 rs769919302 0.1581 None gnomAD-3.1.2 1.31E-05
32820 26 P/S 27 rs769919302 0.1581 None gnomAD-4.0.0 8.9673E-06
32822 28 D/A 29 rs191054704 0.4976 None gnomAD-3.1.2 6.57E-06
32822 28 D/A 29 rs191054704 0.4976 None 1000 genomes 1.99681E-04
32822 28 D/A 29 rs191054704 0.4976 None gnomAD-4.0.0 6.56711E-06
32822 28 D/G 29 rs191054704 0.4976 None gnomAD-2.1.1 5.72E-05
32822 28 D/G 29 rs191054704 0.4976 None gnomAD-3.1.2 1.97E-05
32822 28 D/G 29 rs191054704 0.4976 None gnomAD-4.0.0 2.60262E-05
32822 28 D/N 29 rs921446344 0.4976 None gnomAD-2.1.1 7.14E-06
32822 28 D/N 29 rs921446344 0.4976 None gnomAD-3.1.2 1.97E-05
32822 28 D/N 29 rs921446344 0.4976 None gnomAD-4.0.0 5.57708E-06
32823 29 D/N 30 rs1365292715 0.3231 None gnomAD-2.1.1 4.02E-06
32823 29 D/N 30 rs1365292715 0.3231 None gnomAD-4.0.0 3.18222E-06
32823 29 D/V 30 None 0.3231 None gnomAD-4.0.0 1.20032E-06
32824 30 G/D 31 None 0.2794 None gnomAD-4.0.0 6.84179E-07
32825 31 G/S 32 rs747479441 0.5049 None gnomAD-2.1.1 8.04E-06
32825 31 G/S 32 rs747479441 0.5049 None gnomAD-4.0.0 4.77339E-06
32826 32 A/T 33 None 0.1667 None gnomAD-4.0.0 1.09469E-05
32827 33 D/G 34 rs780460404 0.9797 None gnomAD-2.1.1 1.21E-05
32827 33 D/G 34 rs780460404 0.9797 None gnomAD-4.0.0 4.77327E-06
32828 34 I/V 35 rs199689554 0.2143 None gnomAD-2.1.1 4.28E-05
32828 34 I/V 35 rs199689554 0.2143 None gnomAD-3.1.2 1.31E-05
32828 34 I/V 35 rs199689554 0.2143 None gnomAD-4.0.0 1.67304E-05
32830 36 G/D 37 rs748981337 0.1500 None gnomAD-2.1.1 1.61E-05
32830 36 G/D 37 rs748981337 0.1500 None gnomAD-4.0.0 7.95558E-06
32833 39 L/F 40 rs1368567004 0.0839 None gnomAD-2.1.1 4.02E-06
32833 39 L/F 40 rs1368567004 0.0839 None gnomAD-4.0.0 1.59111E-06
32833 39 L/P 40 None 0.0839 None gnomAD-4.0.0 1.59113E-06
32834 40 E/A 41 rs2154140011 0.1189 None gnomAD-3.1.2 1.97E-05
32834 40 E/A 41 rs2154140011 0.1189 None gnomAD-4.0.0 6.40431E-06
32834 40 E/K 41 rs199761901 0.1189 None gnomAD-2.1.1 1.57071E-04
32834 40 E/K 41 rs199761901 0.1189 None gnomAD-3.1.2 3.48441E-04
32834 40 E/K 41 rs199761901 0.1189 None 1000 genomes 1.99681E-04
32834 40 E/K 41 rs199761901 0.1189 None gnomAD-4.0.0 9.41866E-05
32834 40 E/Q 41 rs199761901 0.1189 None gnomAD-2.1.1 4.02E-06
32834 40 E/Q 41 rs199761901 0.1189 None gnomAD-4.0.0 6.84185E-07
32836 42 R/Q 43 rs368312810 0.1481 None gnomAD-2.1.1 8.04E-06
32836 42 R/Q 43 rs368312810 0.1481 None gnomAD-3.1.2 1.31E-05
32836 42 R/Q 43 rs368312810 0.1481 None gnomAD-4.0.0 1.11546E-05
32837 43 E/Q 44 None 0.1996 None gnomAD-4.0.0 1.59111E-06
32838 44 V/E 50 None 0.3061 None gnomAD-4.0.0 6.84182E-07
32838 44 V/L 50 rs200318160 0.3061 None gnomAD-2.1.1 4.02E-06
32838 44 V/L 50 rs200318160 0.3061 None gnomAD-3.1.2 6.58E-06
32838 44 V/L 50 rs200318160 0.3061 None gnomAD-4.0.0 2.05255E-06
32838 44 V/M 50 None 0.3061 None gnomAD-2.1.1 7.14E-06
32838 44 V/M 50 None 0.3061 None gnomAD-3.1.2 6.58E-06
32838 44 V/M 50 None 0.3061 None gnomAD-4.0.0 8.67578E-06
32839 45 P/R 54 None 0.6341 None gnomAD-4.0.0 1.20032E-06
32839 45 P/T 54 rs949917519 0.6341 None gnomAD-4.0.0 2.25781E-05
32841 47 A/T 63 None 0.7308 None gnomAD-4.0.0 6.84185E-07
32842 48 A/S 64 rs199647622 0.3007 None gnomAD-2.1.1 1.61E-05
32842 48 A/S 64 rs199647622 0.3007 None gnomAD-3.1.2 1.97E-05
32842 48 A/S 64 rs199647622 0.3007 None gnomAD-4.0.0 9.29568E-06
32842 48 A/T 64 rs199647622 0.3007 None gnomAD-2.1.1 6.07E-05
32842 48 A/T 64 rs199647622 0.3007 None gnomAD-3.1.2 1.32E-05
32842 48 A/T 64 rs199647622 0.3007 None gnomAD-4.0.0 2.54082E-05
32843 49 W/C 65 None 0.2224 None gnomAD-4.0.0 1.59116E-06
32843 49 W/G 65 rs765326523 0.2224 None gnomAD-2.1.1 4.02E-06
32843 49 W/G 65 rs765326523 0.2224 None gnomAD-4.0.0 1.59114E-06
32844 50 Y/C 66 None 0.4193 None gnomAD-4.0.0 3.18231E-06
32844 50 Y/N 66 None 0.4193 None gnomAD-4.0.0 1.20032E-06
32845 51 T/I 67 rs1230480423 0.4099 None gnomAD-4.0.0 2.73676E-06
32846 52 I/T 68 rs762000616 0.2511 None gnomAD-2.1.1 1.07E-05
32846 52 I/T 68 rs762000616 0.2511 None gnomAD-3.1.2 1.32E-05
32846 52 I/T 68 rs762000616 0.2511 None gnomAD-4.0.0 5.1246E-06
32847 53 D/N 69 None 0.3071 None gnomAD-4.0.0 1.59117E-06
32847 53 D/Y 69 rs776728106 0.3071 None gnomAD-2.1.1 1.21E-05
32847 53 D/Y 69 rs776728106 0.3071 None gnomAD-4.0.0 6.36468E-06
32851 57 R/Q 83 rs775915301 0.8952 None gnomAD-2.1.1 5.71E-05
32851 57 R/Q 83 rs775915301 0.8952 None gnomAD-3.1.2 1.97E-05
32851 57 R/Q 83 rs775915301 0.8952 None gnomAD-4.0.0 2.29295E-05
32852 58 G/S 88 None 0.3392 None gnomAD-4.0.0 1.59117E-06
32852 58 G/V 88 rs1693340480 0.3392 None gnomAD-4.0.0 1.59121E-06
32853 59 T/I 89 rs746181929 0.1968 None gnomAD-2.1.1 4.02E-06
32853 59 T/I 89 rs746181929 0.1968 None gnomAD-4.0.0 4.10519E-06
32854 60 S/F 90 rs958621500 0.3414 None gnomAD-2.1.1 1.21E-05
32854 60 S/F 90 rs958621500 0.3414 None gnomAD-3.1.2 3.29E-05
32854 60 S/F 90 rs958621500 0.3414 None gnomAD-4.0.0 6.19697E-06
32854 60 S/T 90 None 0.3414 None gnomAD-4.0.0 2.05259E-06
32854 60 S/Y 90 None 0.3414 None gnomAD-4.0.0 6.84198E-07
32855 61 L/P 91 rs772942895 0.2713 None gnomAD-2.1.1 4.02E-06
32855 61 L/P 91 rs772942895 0.2713 None gnomAD-4.0.0 6.15782E-06
32856 62 V/L 92 rs1693334476 0.3031 None gnomAD-3.1.2 6.57E-06
32856 62 V/L 92 rs1693334476 0.3031 None gnomAD-4.0.0 6.57479E-06
32857 63 V/I 93 rs1472412628 0.1248 None gnomAD-2.1.1 4.02E-06
32857 63 V/I 93 rs1472412628 0.1248 None gnomAD-4.0.0 1.59115E-06
32858 64 K/T 94 rs1322355821 0.6722 None gnomAD-4.0.0 3.18228E-06
32859 65 G/A 96 rs370747109 0.5094 None gnomAD-2.1.1 4.02E-06
32859 65 G/A 96 rs370747109 0.5094 None gnomAD-4.0.0 2.73674E-06
32859 65 G/D 96 rs370747109 0.5094 None gnomAD-2.1.1 4.02E-06
32859 65 G/D 96 rs370747109 0.5094 None gnomAD-3.1.2 1.32E-05
32859 65 G/D 96 rs370747109 0.5094 None gnomAD-4.0.0 1.85914E-06
32859 65 G/S 96 rs747772240 0.5094 None gnomAD-2.1.1 4.02E-06
32859 65 G/S 96 rs747772240 0.5094 None gnomAD-4.0.0 1.59114E-06
32859 65 G/V 96 None 0.5094 None gnomAD-4.0.0 6.84185E-07
32862 68 E/G 99 rs754522958 0.4998 None gnomAD-2.1.1 4.02E-06
32862 68 E/G 99 rs754522958 0.4998 None gnomAD-4.0.0 1.59116E-06
32862 68 E/K 99 rs1693326100 0.4998 None gnomAD-4.0.0 3.42093E-06
32862 68 E/V 99 rs754522958 0.4998 None gnomAD-2.1.1 1.2E-05
32862 68 E/V 99 rs754522958 0.4998 None gnomAD-3.1.2 6.57E-06
32862 68 E/V 99 rs754522958 0.4998 None gnomAD-4.0.0 5.12399E-06
32863 69 N/Y 100 rs746957606 0.6748 None gnomAD-2.1.1 4.02E-06
32863 69 N/Y 100 rs746957606 0.6748 None gnomAD-4.0.0 2.05255E-06
32864 70 V/A 102 rs201257063 0.2077 None gnomAD-2.1.1 1.10552E-04
32864 70 V/A 102 rs201257063 0.2077 None gnomAD-3.1.2 3.29E-05
32864 70 V/A 102 rs201257063 0.2077 None gnomAD-4.0.0 1.165E-04
32864 70 V/E 102 rs201257063 0.2077 None gnomAD-3.1.2 6.57E-06
32864 70 V/E 102 rs201257063 0.2077 None gnomAD-4.0.0 6.57255E-06
32866 72 Y/C 104 None 0.0835 None gnomAD-4.0.0 1.20032E-06
32867 73 H/L 105 None 0.2240 None gnomAD-4.0.0 4.77351E-06
32869 75 R/C 107 rs186244950 0.1718 None gnomAD-2.1.1 2.14021E-04
32869 75 R/C 107 rs186244950 0.1718 None gnomAD-3.1.2 1.2489E-04
32869 75 R/C 107 rs186244950 0.1718 None 1000 genomes 1.99681E-04
32869 75 R/C 107 rs186244950 0.1718 None gnomAD-4.0.0 1.19593E-04
32869 75 R/H 107 rs587780495 0.1718 None gnomAD-2.1.1 4.64E-05
32869 75 R/H 107 rs587780495 0.1718 None gnomAD-3.1.2 5.26E-05
32869 75 R/H 107 rs587780495 0.1718 None gnomAD-4.0.0 2.78837E-05
32869 75 R/L 107 None 0.1718 None gnomAD-4.0.0 1.3684E-06
32872 78 A/E 110 None 0.0767 None gnomAD-4.0.0 6.84197E-07
32872 78 A/G 110 rs150288160 0.0767 None gnomAD-2.1.1 1.2E-05
32872 78 A/G 110 rs150288160 0.0767 None gnomAD-3.1.2 2.63E-05
32872 78 A/G 110 rs150288160 0.0767 None 1000 genomes 1.99681E-04
32872 78 A/G 110 rs150288160 0.0767 None gnomAD-4.0.0 2.35467E-05
32872 78 A/S 110 rs1326692589 0.0767 None gnomAD-2.1.1 4.02E-06
32872 78 A/S 110 rs1326692589 0.0767 None gnomAD-4.0.0 1.59122E-06
32873 79 E/K 111 rs1575354700 0.3860 None gnomAD-4.0.0 3.42099E-06
32876 82 F/C 114 rs764169875 0.5413 None gnomAD-3.1.2 6.57E-06
32876 82 F/C 114 rs764169875 0.5413 None gnomAD-4.0.0 1.23939E-06
32876 82 F/S 114 rs764169875 0.5413 None gnomAD-2.1.1 4.02E-06
32876 82 F/S 114 rs764169875 0.5413 None gnomAD-3.1.2 1.31E-05
32876 82 F/S 114 rs764169875 0.5413 None gnomAD-4.0.0 3.71817E-06
32877 83 G/R 115 None 0.2009 None gnomAD-4.0.0 1.20032E-06
32878 84 I/R 117 rs1239539070 0.4582 None gnomAD-2.1.1 7.13E-06
32878 84 I/R 117 rs1239539070 0.4582 None gnomAD-3.1.2 1.31E-05
32878 84 I/R 117 rs1239539070 0.4582 None gnomAD-4.0.0 6.81656E-06
32879 85 S/G 118 rs376395673 0.0940 None gnomAD-4.0.0 1.36842E-06
32880 86 K/R 119 None 0.9178 None gnomAD-4.0.0 1.20032E-06
32881 87 P/H 120 None 0.2947 None gnomAD-4.0.0 1.20032E-06
32881 87 P/S 120 rs367979582 0.2947 None gnomAD-2.1.1 9.99E-05
32881 87 P/S 120 rs367979582 0.2947 None gnomAD-3.1.2 7.89E-05
32881 87 P/S 120 rs367979582 0.2947 None 1000 genomes 3.99361E-04
32881 87 P/S 120 rs367979582 0.2947 None gnomAD-4.0.0 4.52369E-05
32883 89 K/T 122 rs776099498 0.5025 None gnomAD-2.1.1 4.02E-06
32883 89 K/T 122 rs776099498 0.5025 None gnomAD-4.0.0 1.59171E-06
32884 90 S/Y 123 None 0.1525 None gnomAD-4.0.0 1.20033E-06
32885 91 E/K 124 None 0.9147 None gnomAD-4.0.0 2.40064E-06
32886 92 E/A 125 None 0.6410 None gnomAD-4.0.0 6.84682E-07
32886 92 E/G 125 rs1337530273 0.6410 None gnomAD-2.1.1 8.04E-06
32886 92 E/G 125 rs1337530273 0.6410 None gnomAD-4.0.0 1.36936E-06
32886 92 E/K 125 rs767866367 0.6410 None gnomAD-2.1.1 4.02E-06
32886 92 E/K 125 rs767866367 0.6410 None gnomAD-4.0.0 1.59413E-06
32887 93 P/A 126 rs55653324 0.2842 None gnomAD-2.1.1 3.22E-05
32887 93 P/A 126 rs55653324 0.2842 None gnomAD-3.1.2 6.57E-06
32887 93 P/A 126 rs55653324 0.2842 None gnomAD-4.0.0 1.92236E-05
32887 93 P/Q 126 rs774623766 0.2842 None gnomAD-2.1.1 7.14E-06
32887 93 P/Q 126 rs774623766 0.2842 None gnomAD-4.0.0 6.84775E-07
32887 93 P/R 126 None 0.2842 None gnomAD-4.0.0 6.84775E-07
32887 93 P/S 126 None 0.2842 None gnomAD-4.0.0 1.36944E-06
32887 93 P/T 126 rs55653324 0.2842 None gnomAD-3.1.2 6.57E-06
32887 93 P/T 126 rs55653324 0.2842 None gnomAD-4.0.0 6.57272E-06
32889 95 T/A 128 rs771323245 0.2992 None gnomAD-2.1.1 7.14E-06
32889 95 T/A 128 rs771323245 0.2992 None gnomAD-3.1.2 6.57E-06
32889 95 T/A 128 rs771323245 0.2992 None gnomAD-4.0.0 2.56849E-06
32889 95 T/K 128 rs1693292110 0.2992 None gnomAD-4.0.0 1.59656E-06
32889 95 T/R 128 None 0.2992 None gnomAD-4.0.0 1.59656E-06
32891 97 K/E 131 rs768773826 0.5383 None gnomAD-4.0.0 3.19482E-06
32892 98 T/A 132 None 0.2968 None gnomAD-4.0.0 1.59916E-06