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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
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

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
32795 1 S/R 1 rs373396567 0.4251 None gnomAD-2.1.1 6.8E-05
32795 1 S/R 1 rs373396567 0.4251 None gnomAD-3.1.2 1.64569E-04
32795 1 S/R 1 rs373396567 0.4251 None gnomAD-4.0.0 3.0991E-05
32796 2 P/A 2 rs1693423139 0.1171 None gnomAD-4.0.0 1.59158E-06
32796 2 P/L 2 None 0.1171 None gnomAD-4.0.0 8.89541E-06
32796 2 P/S 2 None 0.1171 None gnomAD-4.0.0 1.59158E-06
32797 3 N/K 3 None 0.5049 None gnomAD-4.0.0 6.84252E-07
32797 3 N/S 3 rs149001703 0.5049 None gnomAD-2.1.1 4.38233E-03
32797 3 N/S 3 rs149001703 0.5049 None gnomAD-3.1.2 4.97705E-03
32797 3 N/S 3 rs149001703 0.5049 None 1000 genomes 3.99361E-03
32797 3 N/S 3 rs149001703 0.5049 None gnomAD-4.0.0 5.94974E-03
32799 5 P/L 5 None 0.1060 None gnomAD-4.0.0 1.59151E-06
32800 6 E/K 6 None 0.4030 None gnomAD-4.0.0 1.08029E-05
32801 7 G/A 7 None 0.4017 None gnomAD-4.0.0 6.84241E-07
32801 7 G/E 7 None 0.4017 None gnomAD-4.0.0 1.36848E-06
32801 7 G/R 7 rs1351373936 0.4017 None gnomAD-2.1.1 4.03E-06
32801 7 G/R 7 rs1351373936 0.4017 None gnomAD-4.0.0 3.18283E-06
32802 8 P/T 8 rs1165279106 0.6707 None gnomAD-2.1.1 4.03E-06
32802 8 P/T 8 rs1165279106 0.6707 None gnomAD-3.1.2 6.57E-06
32802 8 P/T 8 rs1165279106 0.6707 None gnomAD-4.0.0 2.56264E-06
32803 9 L/P 9 None 0.1817 None gnomAD-4.0.0 1.59136E-06
32808 14 I/S 15 None 0.3694 None gnomAD-4.0.0 1.20032E-06
32808 14 I/T 15 rs1388284089 0.3694 None gnomAD-2.1.1 4.03E-06
32809 15 Q/H 16 rs1271415335 0.4547 None gnomAD-3.1.2 6.57E-06
32809 15 Q/H 16 rs1271415335 0.4547 None gnomAD-4.0.0 2.5622E-06
32809 15 Q/P 16 rs1060500398 0.4547 None gnomAD-2.1.1 3.19E-05
32809 15 Q/P 16 rs1060500398 0.4547 None gnomAD-3.1.2 6.57E-06
32809 15 Q/P 16 rs1060500398 0.4547 None gnomAD-4.0.0 3.09854E-06
32811 17 R/C 18 rs371807358 0.6624 None gnomAD-2.1.1 8.58E-05
32811 17 R/C 18 rs371807358 0.6624 None gnomAD-3.1.2 7.89E-05
32811 17 R/C 18 rs371807358 0.6624 None gnomAD-4.0.0 9.11005E-05
32811 17 R/H 18 rs751450347 0.6624 None gnomAD-2.1.1 2.82E-05
32811 17 R/H 18 rs751450347 0.6624 None gnomAD-3.1.2 1.97E-05
32811 17 R/H 18 rs751450347 0.6624 None gnomAD-4.0.0 1.36341E-05
32811 17 R/L 18 None 0.6624 None gnomAD-4.0.0 1.36847E-06
32812 18 S/P 19 None 0.1602 None gnomAD-4.0.0 8.40225E-06
32813 19 V/L 20 None 0.1008 None gnomAD-4.0.0 6.84202E-07
32813 19 V/M 20 rs1693400485 0.1008 None gnomAD-4.0.0 2.05261E-06
32814 20 R/K 21 rs1487649539 0.3530 None gnomAD-2.1.1 4.03E-06
32814 20 R/K 21 rs1487649539 0.3530 None gnomAD-4.0.0 6.84205E-07
32814 20 R/T 21 rs1487649539 0.3530 None gnomAD-2.1.1 4.03E-06
32814 20 R/T 21 rs1487649539 0.3530 None gnomAD-3.1.2 6.57E-06
32814 20 R/T 21 rs1487649539 0.3530 None gnomAD-4.0.0 1.85912E-06
32816 22 S/N 23 rs773294476 0.2027 None gnomAD-2.1.1 8.05E-06
32816 22 S/N 23 rs773294476 0.2027 None gnomAD-4.0.0 3.18246E-06
32818 24 R/K 25 rs794729551 0.4353 None gnomAD-2.1.1 3.19E-05
32818 24 R/K 25 rs794729551 0.4353 None gnomAD-3.1.2 1.97E-05
32818 24 R/K 25 rs794729551 0.4353 None gnomAD-4.0.0 5.12407E-06
32820 26 P/S 27 rs769919302 0.1936 None gnomAD-2.1.1 1.21E-05
32820 26 P/S 27 rs769919302 0.1936 None gnomAD-3.1.2 1.31E-05
32820 26 P/S 27 rs769919302 0.1936 None gnomAD-4.0.0 8.9673E-06
32822 28 D/A 29 rs191054704 0.5259 None gnomAD-3.1.2 6.57E-06
32822 28 D/A 29 rs191054704 0.5259 None 1000 genomes 1.99681E-04
32822 28 D/A 29 rs191054704 0.5259 None gnomAD-4.0.0 6.56711E-06
32822 28 D/G 29 rs191054704 0.5259 None gnomAD-2.1.1 5.72E-05
32822 28 D/G 29 rs191054704 0.5259 None gnomAD-3.1.2 1.97E-05
32822 28 D/G 29 rs191054704 0.5259 None gnomAD-4.0.0 2.60262E-05
32822 28 D/N 29 rs921446344 0.5259 None gnomAD-2.1.1 7.14E-06
32822 28 D/N 29 rs921446344 0.5259 None gnomAD-3.1.2 1.97E-05
32822 28 D/N 29 rs921446344 0.5259 None gnomAD-4.0.0 5.57708E-06
32823 29 D/N 30 rs1365292715 0.3274 None gnomAD-2.1.1 4.02E-06
32823 29 D/N 30 rs1365292715 0.3274 None gnomAD-4.0.0 3.18222E-06
32823 29 D/V 30 None 0.3274 None gnomAD-4.0.0 1.20032E-06
32824 30 G/D 31 None 0.3401 None gnomAD-4.0.0 6.84179E-07
32825 31 G/S 32 rs747479441 0.5485 None gnomAD-2.1.1 8.04E-06
32825 31 G/S 32 rs747479441 0.5485 None gnomAD-4.0.0 4.77339E-06
32826 32 A/T 33 None 0.1716 None gnomAD-4.0.0 1.09469E-05
32827 33 D/G 34 rs780460404 0.9611 None gnomAD-2.1.1 1.21E-05
32827 33 D/G 34 rs780460404 0.9611 None gnomAD-4.0.0 4.77327E-06
32828 34 I/V 35 rs199689554 0.2198 None gnomAD-2.1.1 4.28E-05
32828 34 I/V 35 rs199689554 0.2198 None gnomAD-3.1.2 1.31E-05
32828 34 I/V 35 rs199689554 0.2198 None gnomAD-4.0.0 1.67304E-05
32830 36 G/D 37 rs748981337 0.1555 None gnomAD-2.1.1 1.61E-05
32830 36 G/D 37 rs748981337 0.1555 None gnomAD-4.0.0 7.95558E-06
32833 39 L/F 40 rs1368567004 0.0949 None gnomAD-2.1.1 4.02E-06
32833 39 L/F 40 rs1368567004 0.0949 None gnomAD-4.0.0 1.59111E-06
32833 39 L/P 40 None 0.0949 None gnomAD-4.0.0 1.59113E-06
32834 40 E/A 41 rs2154140011 0.1342 None gnomAD-3.1.2 1.97E-05
32834 40 E/A 41 rs2154140011 0.1342 None gnomAD-4.0.0 6.40431E-06
32834 40 E/K 41 rs199761901 0.1342 None gnomAD-2.1.1 1.57071E-04
32834 40 E/K 41 rs199761901 0.1342 None gnomAD-3.1.2 3.48441E-04
32834 40 E/K 41 rs199761901 0.1342 None 1000 genomes 1.99681E-04
32834 40 E/K 41 rs199761901 0.1342 None gnomAD-4.0.0 9.41866E-05
32834 40 E/Q 41 rs199761901 0.1342 None gnomAD-2.1.1 4.02E-06
32834 40 E/Q 41 rs199761901 0.1342 None gnomAD-4.0.0 6.84185E-07
32836 42 R/Q 43 rs368312810 0.1969 None gnomAD-2.1.1 8.04E-06
32836 42 R/Q 43 rs368312810 0.1969 None gnomAD-3.1.2 1.31E-05
32836 42 R/Q 43 rs368312810 0.1969 None gnomAD-4.0.0 1.11546E-05
32837 43 E/Q 44 None 0.1863 None gnomAD-4.0.0 1.59111E-06
32838 44 V/E 50 None 0.3473 None gnomAD-4.0.0 6.84182E-07
32838 44 V/L 50 rs200318160 0.3473 None gnomAD-2.1.1 4.02E-06
32838 44 V/L 50 rs200318160 0.3473 None gnomAD-3.1.2 6.58E-06
32838 44 V/L 50 rs200318160 0.3473 None gnomAD-4.0.0 2.05255E-06
32838 44 V/M 50 None 0.3473 None gnomAD-2.1.1 7.14E-06
32838 44 V/M 50 None 0.3473 None gnomAD-3.1.2 6.58E-06
32838 44 V/M 50 None 0.3473 None gnomAD-4.0.0 8.67578E-06
32839 45 P/R 54 None 0.6482 None gnomAD-4.0.0 1.20032E-06
32839 45 P/T 54 rs949917519 0.6482 None gnomAD-4.0.0 2.25781E-05
32841 47 A/T 63 None 0.7257 None gnomAD-4.0.0 6.84185E-07
32842 48 A/S 64 rs199647622 0.3348 None gnomAD-2.1.1 1.61E-05
32842 48 A/S 64 rs199647622 0.3348 None gnomAD-3.1.2 1.97E-05
32842 48 A/S 64 rs199647622 0.3348 None gnomAD-4.0.0 9.29568E-06
32842 48 A/T 64 rs199647622 0.3348 None gnomAD-2.1.1 6.07E-05
32842 48 A/T 64 rs199647622 0.3348 None gnomAD-3.1.2 1.32E-05
32842 48 A/T 64 rs199647622 0.3348 None gnomAD-4.0.0 2.54082E-05
32843 49 W/C 65 None 0.2105 None gnomAD-4.0.0 1.59116E-06
32843 49 W/G 65 rs765326523 0.2105 None gnomAD-2.1.1 4.02E-06
32843 49 W/G 65 rs765326523 0.2105 None gnomAD-4.0.0 1.59114E-06
32844 50 Y/C 66 None 0.5788 None gnomAD-4.0.0 3.18231E-06
32844 50 Y/N 66 None 0.5788 None gnomAD-4.0.0 1.20032E-06
32845 51 T/I 67 rs1230480423 0.4407 None gnomAD-4.0.0 2.73676E-06
32846 52 I/T 68 rs762000616 0.2534 None gnomAD-2.1.1 1.07E-05
32846 52 I/T 68 rs762000616 0.2534 None gnomAD-3.1.2 1.32E-05
32846 52 I/T 68 rs762000616 0.2534 None gnomAD-4.0.0 5.1246E-06
32847 53 D/N 69 None 0.3103 None gnomAD-4.0.0 1.59117E-06
32847 53 D/Y 69 rs776728106 0.3103 None gnomAD-2.1.1 1.21E-05
32847 53 D/Y 69 rs776728106 0.3103 None gnomAD-4.0.0 6.36468E-06
32851 57 R/Q 83 rs775915301 0.9468 None gnomAD-2.1.1 5.71E-05
32851 57 R/Q 83 rs775915301 0.9468 None gnomAD-3.1.2 1.97E-05
32851 57 R/Q 83 rs775915301 0.9468 None gnomAD-4.0.0 2.29295E-05
32852 58 G/S 88 None 0.3324 None gnomAD-4.0.0 1.59117E-06
32852 58 G/V 88 rs1693340480 0.3324 None gnomAD-4.0.0 1.59121E-06
32853 59 T/I 89 rs746181929 0.2260 None gnomAD-2.1.1 4.02E-06
32853 59 T/I 89 rs746181929 0.2260 None gnomAD-4.0.0 4.10519E-06
32854 60 S/F 90 rs958621500 0.3296 None gnomAD-2.1.1 1.21E-05
32854 60 S/F 90 rs958621500 0.3296 None gnomAD-3.1.2 3.29E-05
32854 60 S/F 90 rs958621500 0.3296 None gnomAD-4.0.0 6.19697E-06
32854 60 S/T 90 None 0.3296 None gnomAD-4.0.0 2.05259E-06
32854 60 S/Y 90 None 0.3296 None gnomAD-4.0.0 6.84198E-07
32855 61 L/P 91 rs772942895 0.2589 None gnomAD-2.1.1 4.02E-06
32855 61 L/P 91 rs772942895 0.2589 None gnomAD-4.0.0 6.15782E-06
32856 62 V/L 92 rs1693334476 0.3336 None gnomAD-3.1.2 6.57E-06
32856 62 V/L 92 rs1693334476 0.3336 None gnomAD-4.0.0 6.57479E-06
32857 63 V/I 93 rs1472412628 0.1193 None gnomAD-2.1.1 4.02E-06
32857 63 V/I 93 rs1472412628 0.1193 None gnomAD-4.0.0 1.59115E-06
32858 64 K/T 94 rs1322355821 0.6817 None gnomAD-4.0.0 3.18228E-06
32859 65 G/A 96 rs370747109 0.4248 None gnomAD-2.1.1 4.02E-06
32859 65 G/A 96 rs370747109 0.4248 None gnomAD-4.0.0 2.73674E-06
32859 65 G/D 96 rs370747109 0.4248 None gnomAD-2.1.1 4.02E-06
32859 65 G/D 96 rs370747109 0.4248 None gnomAD-3.1.2 1.32E-05
32859 65 G/D 96 rs370747109 0.4248 None gnomAD-4.0.0 1.85914E-06
32859 65 G/S 96 rs747772240 0.4248 None gnomAD-2.1.1 4.02E-06
32859 65 G/S 96 rs747772240 0.4248 None gnomAD-4.0.0 1.59114E-06
32859 65 G/V 96 None 0.4248 None gnomAD-4.0.0 6.84185E-07
32862 68 E/G 99 rs754522958 0.2833 None gnomAD-2.1.1 4.02E-06
32862 68 E/G 99 rs754522958 0.2833 None gnomAD-4.0.0 1.59116E-06
32862 68 E/K 99 rs1693326100 0.2833 None gnomAD-4.0.0 3.42093E-06
32862 68 E/V 99 rs754522958 0.2833 None gnomAD-2.1.1 1.2E-05
32862 68 E/V 99 rs754522958 0.2833 None gnomAD-3.1.2 6.57E-06
32862 68 E/V 99 rs754522958 0.2833 None gnomAD-4.0.0 5.12399E-06
32863 69 N/Y 100 rs746957606 0.6207 None gnomAD-2.1.1 4.02E-06
32863 69 N/Y 100 rs746957606 0.6207 None gnomAD-4.0.0 2.05255E-06
32864 70 V/A 102 rs201257063 0.1861 None gnomAD-2.1.1 1.10552E-04
32864 70 V/A 102 rs201257063 0.1861 None gnomAD-3.1.2 3.29E-05
32864 70 V/A 102 rs201257063 0.1861 None gnomAD-4.0.0 1.165E-04
32864 70 V/E 102 rs201257063 0.1861 None gnomAD-3.1.2 6.57E-06
32864 70 V/E 102 rs201257063 0.1861 None gnomAD-4.0.0 6.57255E-06
32866 72 Y/C 104 None 0.0742 None gnomAD-4.0.0 1.20032E-06
32867 73 H/L 105 None 0.2360 None gnomAD-4.0.0 4.77351E-06
32869 75 R/C 107 rs186244950 0.1589 None gnomAD-2.1.1 2.14021E-04
32869 75 R/C 107 rs186244950 0.1589 None gnomAD-3.1.2 1.2489E-04
32869 75 R/C 107 rs186244950 0.1589 None 1000 genomes 1.99681E-04
32869 75 R/C 107 rs186244950 0.1589 None gnomAD-4.0.0 1.19593E-04
32869 75 R/H 107 rs587780495 0.1589 None gnomAD-2.1.1 4.64E-05
32869 75 R/H 107 rs587780495 0.1589 None gnomAD-3.1.2 5.26E-05
32869 75 R/H 107 rs587780495 0.1589 None gnomAD-4.0.0 2.78837E-05
32869 75 R/L 107 None 0.1589 None gnomAD-4.0.0 1.3684E-06
32872 78 A/E 110 None 0.0783 None gnomAD-4.0.0 6.84197E-07
32872 78 A/G 110 rs150288160 0.0783 None gnomAD-2.1.1 1.2E-05
32872 78 A/G 110 rs150288160 0.0783 None gnomAD-3.1.2 2.63E-05
32872 78 A/G 110 rs150288160 0.0783 None 1000 genomes 1.99681E-04
32872 78 A/G 110 rs150288160 0.0783 None gnomAD-4.0.0 2.35467E-05
32872 78 A/S 110 rs1326692589 0.0783 None gnomAD-2.1.1 4.02E-06
32872 78 A/S 110 rs1326692589 0.0783 None gnomAD-4.0.0 1.59122E-06
32873 79 E/K 111 rs1575354700 0.3527 None gnomAD-4.0.0 3.42099E-06
32876 82 F/C 114 rs764169875 0.6007 None gnomAD-3.1.2 6.57E-06
32876 82 F/C 114 rs764169875 0.6007 None gnomAD-4.0.0 1.23939E-06
32876 82 F/S 114 rs764169875 0.6007 None gnomAD-2.1.1 4.02E-06
32876 82 F/S 114 rs764169875 0.6007 None gnomAD-3.1.2 1.31E-05
32876 82 F/S 114 rs764169875 0.6007 None gnomAD-4.0.0 3.71817E-06
32877 83 G/R 115 None 0.1990 None gnomAD-4.0.0 1.20032E-06
32878 84 I/R 117 rs1239539070 0.4457 None gnomAD-2.1.1 7.13E-06
32878 84 I/R 117 rs1239539070 0.4457 None gnomAD-3.1.2 1.31E-05
32878 84 I/R 117 rs1239539070 0.4457 None gnomAD-4.0.0 6.81656E-06
32879 85 S/G 118 rs376395673 0.0964 None gnomAD-4.0.0 1.36842E-06
32880 86 K/R 119 None 0.9007 None gnomAD-4.0.0 1.20032E-06
32881 87 P/H 120 None 0.3113 None gnomAD-4.0.0 1.20032E-06
32881 87 P/S 120 rs367979582 0.3113 None gnomAD-2.1.1 9.99E-05
32881 87 P/S 120 rs367979582 0.3113 None gnomAD-3.1.2 7.89E-05
32881 87 P/S 120 rs367979582 0.3113 None 1000 genomes 3.99361E-04
32881 87 P/S 120 rs367979582 0.3113 None gnomAD-4.0.0 4.52369E-05
32883 89 K/T 122 rs776099498 0.5191 None gnomAD-2.1.1 4.02E-06
32883 89 K/T 122 rs776099498 0.5191 None gnomAD-4.0.0 1.59171E-06
32884 90 S/Y 123 None 0.1500 None gnomAD-4.0.0 1.20033E-06
32885 91 E/K 124 None 0.9140 None gnomAD-4.0.0 2.40064E-06
32886 92 E/A 125 None 0.5946 None gnomAD-4.0.0 6.84682E-07
32886 92 E/G 125 rs1337530273 0.5946 None gnomAD-2.1.1 8.04E-06
32886 92 E/G 125 rs1337530273 0.5946 None gnomAD-4.0.0 1.36936E-06
32886 92 E/K 125 rs767866367 0.5946 None gnomAD-2.1.1 4.02E-06
32886 92 E/K 125 rs767866367 0.5946 None gnomAD-4.0.0 1.59413E-06
32887 93 P/A 126 rs55653324 0.2837 None gnomAD-2.1.1 3.22E-05
32887 93 P/A 126 rs55653324 0.2837 None gnomAD-3.1.2 6.57E-06
32887 93 P/A 126 rs55653324 0.2837 None gnomAD-4.0.0 1.92236E-05
32887 93 P/Q 126 rs774623766 0.2837 None gnomAD-2.1.1 7.14E-06
32887 93 P/Q 126 rs774623766 0.2837 None gnomAD-4.0.0 6.84775E-07
32887 93 P/R 126 None 0.2837 None gnomAD-4.0.0 6.84775E-07
32887 93 P/S 126 None 0.2837 None gnomAD-4.0.0 1.36944E-06
32887 93 P/T 126 rs55653324 0.2837 None gnomAD-3.1.2 6.57E-06
32887 93 P/T 126 rs55653324 0.2837 None gnomAD-4.0.0 6.57272E-06
32889 95 T/A 128 rs771323245 0.3030 None gnomAD-2.1.1 7.14E-06
32889 95 T/A 128 rs771323245 0.3030 None gnomAD-3.1.2 6.57E-06
32889 95 T/A 128 rs771323245 0.3030 None gnomAD-4.0.0 2.56849E-06
32889 95 T/K 128 rs1693292110 0.3030 None gnomAD-4.0.0 1.59656E-06
32889 95 T/R 128 None 0.3030 None gnomAD-4.0.0 1.59656E-06
32891 97 K/E 131 rs768773826 0.6382 None gnomAD-4.0.0 3.19482E-06
32892 98 T/A 132 None 0.4669 None gnomAD-4.0.0 1.59916E-06