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

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
5543 1 A/T 1 rs1460498518 0.1343 None gnomAD-2.1.1 3.19E-05
5543 1 A/T 1 rs1460498518 0.1343 None gnomAD-3.1.2 6.57E-06
5543 1 A/T 1 rs1460498518 0.1343 None gnomAD-4.0.0 6.57445E-06
5544 2 T/K 2 rs751511581 0.4652 None gnomAD-2.1.1 4.18E-06
5544 2 T/K 2 rs751511581 0.4652 None gnomAD-4.0.0 1.62648E-06
5545 3 F/L 3 rs1372586778 0.1392 None gnomAD-2.1.1 3.19E-05
5545 3 F/L 3 rs1372586778 0.1392 None gnomAD-3.1.2 6.57E-06
5545 3 F/L 3 rs1372586778 0.1392 None gnomAD-4.0.0 3.04478E-06
5545 3 F/S 3 rs999328804 0.1392 None gnomAD-3.1.2 1.31E-05
5545 3 F/S 3 rs999328804 0.1392 None gnomAD-4.0.0 3.04492E-06
5546 4 V/G 4 rs903298127 0.6347 None gnomAD-4.0.0 1.62235E-06
5546 4 V/I 4 rs2154310117 0.6347 None gnomAD-4.0.0 1.20032E-06
5547 5 E/K 5 rs766334270 0.5082 None gnomAD-2.1.1 4.18E-06
5547 5 E/K 5 rs766334270 0.5082 None gnomAD-4.0.0 6.89766E-07
5549 7 L/F 8 None 0.1986 None gnomAD-4.0.0 1.61318E-06
5551 9 P/L 11 rs762729065 0.6631 None gnomAD-2.1.1 4.11E-06
5551 9 P/L 11 rs762729065 0.6631 None gnomAD-4.0.0 1.61106E-06
5551 9 P/T 11 rs1578181149 0.6631 None gnomAD-4.0.0 1.08029E-05
5552 10 S/L 13 None 0.4181 None gnomAD-4.0.0 1.59916E-06
5554 12 L/M 16 rs2080687572 0.4044 None gnomAD-4.0.0 1.59845E-06
5554 12 L/V 16 None 0.4044 None gnomAD-4.0.0 1.59846E-06
5559 17 D/V 25 rs1394384005 0.3254 None gnomAD-4.0.0 6.37093E-06
5560 18 A/D 26 rs1203322735 0.4806 None gnomAD-2.1.1 8.07E-06
5560 18 A/D 26 rs1203322735 0.4806 None gnomAD-4.0.0 1.36889E-05
5561 19 T/I 28 rs1434244184 0.2609 None gnomAD-3.1.2 6.57E-06
5561 19 T/I 28 rs1434244184 0.2609 None gnomAD-4.0.0 6.57324E-06
5561 19 T/N 28 None 0.2609 None gnomAD-4.0.0 1.59223E-06
5564 22 A/G 31 rs1251516038 0.3021 None gnomAD-3.1.2 6.57E-06
5564 22 A/G 31 rs1251516038 0.3021 None gnomAD-4.0.0 6.57428E-06
5565 23 C/S 33 rs1228967454 0.0992 None gnomAD-2.1.1 4.03E-06
5565 23 C/S 33 rs1228967454 0.0992 None gnomAD-4.0.0 1.59171E-06
5565 23 C/Y 33 None 0.0992 None gnomAD-4.0.0 1.20032E-06
5566 24 K/T 34 None 0.3321 None gnomAD-4.0.0 1.20032E-06
5567 25 V/L 35 None 0.1215 None gnomAD-4.0.0 1.59152E-06
5569 27 G/D 40 rs761085549 0.3761 None gnomAD-2.1.1 7.15E-06
5569 27 G/D 40 rs761085549 0.3761 None gnomAD-3.1.2 6.57E-06
5569 27 G/D 40 rs761085549 0.3761 None gnomAD-4.0.0 2.56247E-06
5569 27 G/S 40 rs1311137790 0.3761 None gnomAD-3.1.2 1.31E-05
5569 27 G/S 40 rs1311137790 0.3761 None gnomAD-4.0.0 6.40605E-06
5570 28 T/I 41 rs535319438 0.7427 None gnomAD-2.1.1 1.04682E-04
5570 28 T/I 41 rs535319438 0.7427 None gnomAD-3.1.2 1.97E-05
5570 28 T/I 41 rs535319438 0.7427 None 1000 genomes 3.99361E-04
5570 28 T/I 41 rs535319438 0.7427 None gnomAD-4.0.0 3.47017E-05
5570 28 T/N 41 rs535319438 0.7427 None gnomAD-2.1.1 4.03E-06
5570 28 T/N 41 rs535319438 0.7427 None gnomAD-4.0.0 2.05268E-06
5571 29 P/S 42 rs566415754 0.6397 None gnomAD-2.1.1 4.03E-06
5571 29 P/S 42 rs566415754 0.6397 None gnomAD-3.1.2 6.57E-06
5571 29 P/S 42 rs566415754 0.6397 None 1000 genomes 1.99681E-04
5571 29 P/S 42 rs566415754 0.6397 None gnomAD-4.0.0 6.56918E-06
5573 31 I/S 44 None 0.1639 None gnomAD-4.0.0 1.20032E-06
5575 33 I/L 46 rs1253223397 0.1785 None gnomAD-2.1.1 3.19E-05
5575 33 I/L 46 rs1253223397 0.1785 None gnomAD-3.1.2 6.57E-06
5575 33 I/L 46 rs1253223397 0.1785 None gnomAD-4.0.0 1.36841E-06
5576 34 T/A 47 rs769401892 0.1796 None gnomAD-2.1.1 4.02E-06
5576 34 T/R 47 None 0.1796 None gnomAD-4.0.0 1.59124E-06
5577 35 W/R 48 rs1194619992 0.1266 None gnomAD-2.1.1 3.19E-05
5577 35 W/R 48 rs1194619992 0.1266 None gnomAD-3.1.2 6.57E-06
5577 35 W/R 48 rs1194619992 0.1266 None gnomAD-4.0.0 1.8591E-06
5579 37 A/S 50 rs747856086 0.1680 None gnomAD-2.1.1 4.02E-06
5579 37 A/T 50 None 0.1680 None gnomAD-4.0.0 1.59122E-06
5579 37 A/V 50 rs2080673398 0.1680 None gnomAD-3.1.2 6.57E-06
5579 37 A/V 50 rs2080673398 0.1680 None gnomAD-4.0.0 6.57341E-06
5580 38 N/D 51 rs376598696 0.5308 None gnomAD-2.1.1 2.14E-05
5580 38 N/D 51 rs376598696 0.5308 None gnomAD-3.1.2 1.97E-05
5580 38 N/D 51 rs376598696 0.5308 None gnomAD-4.0.0 8.96753E-06
5581 39 D/N 52 rs868601649 1.0107 None gnomAD-4.0.0 3.1824E-06
5581 39 D/V 52 rs1051626873 1.0107 None gnomAD-2.1.1 3.19E-05
5581 39 D/V 52 rs1051626873 1.0107 None gnomAD-3.1.2 6.57E-06
5581 39 D/V 52 rs1051626873 1.0107 None gnomAD-4.0.0 6.08957E-06
5581 39 D/Y 52 None 1.0107 None gnomAD-4.0.0 1.5912E-06
5582 40 R/G 55 None 0.7641 None gnomAD-4.0.0 1.59119E-06
5582 40 R/I 55 rs1232658661 0.7641 None gnomAD-3.1.2 6.57E-06
5582 40 R/I 55 rs1232658661 0.7641 None gnomAD-4.0.0 6.57125E-06
5583 41 E/K 56 None 0.5022 None gnomAD-4.0.0 1.59117E-06
5584 42 I/N 58 rs779652311 0.1512 None gnomAD-2.1.1 1.20671E-04
5584 42 I/N 58 rs779652311 0.1512 None gnomAD-3.1.2 6.57E-06
5584 42 I/N 58 rs779652311 0.1512 None gnomAD-4.0.0 5.14352E-05
5584 42 I/V 58 rs368116422 0.1512 None gnomAD-2.1.1 4.02E-06
5584 42 I/V 58 rs368116422 0.1512 None gnomAD-3.1.2 6.57E-06
5584 42 I/V 58 rs368116422 0.1512 None gnomAD-4.0.0 1.54916E-05
5585 43 K/T 59 rs1180216660 0.7665 None gnomAD-2.1.1 1.21E-05
5585 43 K/T 59 rs1180216660 0.7665 None gnomAD-3.1.2 6.57E-06
5585 43 K/T 59 rs1180216660 0.7665 None gnomAD-4.0.0 5.12397E-06
5586 44 E/D 70 None 0.4365 None gnomAD-4.0.0 3.60097E-06
5586 44 E/K 70 rs2080668204 0.4365 None gnomAD-4.0.0 2.40064E-06
5586 44 E/Q 70 rs2080668204 0.4365 None gnomAD-3.1.2 6.57E-06
5586 44 E/Q 70 rs2080668204 0.4365 None gnomAD-4.0.0 6.57272E-06
5587 45 S/G 73 rs2080667352 0.2578 None gnomAD-4.0.0 2.40064E-06
5588 46 S/G 111 None 0.8283 None gnomAD-4.0.0 6.84195E-07
5588 46 S/N 111 None 0.8283 None gnomAD-4.0.0 1.5912E-06
5588 46 S/R 111 rs1203421858 0.8283 None gnomAD-3.1.2 6.57E-06
5588 46 S/R 111 rs1203421858 0.8283 None gnomAD-4.0.0 1.17736E-05
5591 49 R/I 122 rs750316973 0.6999 None gnomAD-2.1.1 1.61E-05
5591 49 R/I 122 rs750316973 0.6999 None gnomAD-4.0.0 1.0263E-05
5592 50 M/I 123 rs879188937 0.2778 None gnomAD-2.1.1 4.02E-06
5592 50 M/I 123 rs879188937 0.2778 None gnomAD-4.0.0 8.89456E-06
5592 50 M/V 123 None 0.2778 None gnomAD-4.0.0 1.20032E-06
5593 51 S/A 125 None 0.4255 None gnomAD-4.0.0 1.36839E-06
5594 52 F/S 127 rs1210237703 0.3410 None gnomAD-2.1.1 4.02E-06
5594 52 F/S 127 rs1210237703 0.3410 None gnomAD-4.0.0 1.59123E-06
5595 53 V/M 130 None 0.6462 None gnomAD-4.0.0 1.59122E-06
5596 54 E/A 131 None 0.8950 None gnomAD-4.0.0 4.78939E-06
5597 55 S/F 134 rs754116386 0.3312 None gnomAD-2.1.1 2.5E-05
5597 55 S/F 134 rs754116386 0.3312 None gnomAD-3.1.2 6.57E-06
5597 55 S/F 134 rs754116386 0.3312 None gnomAD-4.0.0 2.47882E-05
5597 55 S/P 134 rs757304144 0.3312 None gnomAD-2.1.1 4.02E-06
5598 56 T/A 135 rs1407842307 0.2385 None gnomAD-2.1.1 4.02E-06
5598 56 T/A 135 rs1407842307 0.2385 None gnomAD-4.0.0 1.36841E-06
5599 57 A/V 136 rs1194013551 0.0905 None gnomAD-4.0.0 3.1825E-06
5602 60 R/G 139 None 0.5298 None gnomAD-4.0.0 1.20032E-06
5603 61 L/R 140 rs956272919 0.1735 None gnomAD-3.1.2 6.57E-06
5603 61 L/R 140 rs956272919 0.1735 None gnomAD-4.0.0 6.81678E-06
5605 63 D/N 143 None 0.7721 None gnomAD-4.0.0 2.73689E-06
5606 64 V/A 144 rs1356962832 0.1189 None gnomAD-4.0.0 2.73687E-06
5606 64 V/F 144 None 0.1189 None gnomAD-4.0.0 1.59131E-06
5607 65 G/D 145 rs2080656904 0.1140 None gnomAD-4.0.0 6.36531E-06
5607 65 G/R 145 rs929034760 0.1140 None gnomAD-4.0.0 2.40064E-06
5607 65 G/S 145 None 0.1140 None gnomAD-4.0.0 1.20032E-06
5609 67 E/G 148 None 0.4341 None gnomAD-4.0.0 1.59132E-06
5609 67 E/K 148 rs374682077 0.4341 None gnomAD-2.1.1 3.22E-05
5609 67 E/K 148 rs374682077 0.4341 None gnomAD-3.1.2 7.89E-05
5609 67 E/K 148 rs374682077 0.4341 None gnomAD-4.0.0 2.04492E-05
5610 68 D/N 149 None 0.2240 None gnomAD-4.0.0 1.59136E-06
5611 69 S/R 151 rs775946529 0.2807 None gnomAD-2.1.1 4.02E-06
5611 69 S/R 151 rs775946529 0.2807 None gnomAD-4.0.0 1.59133E-06
5612 70 G/S 152 rs1060500588 0.1997 None gnomAD-4.0.0 1.59137E-06
5613 71 E/D 153 rs397517483 0.4884 None gnomAD-3.1.2 6.57E-06
5613 71 E/D 153 rs397517483 0.4884 None gnomAD-4.0.0 2.47881E-06
5613 71 E/Q 153 rs2080652790 0.4884 None gnomAD-4.0.0 1.59143E-06
5614 72 Y/C 154 rs2080651364 0.1705 None gnomAD-3.1.2 6.57E-06
5614 72 Y/C 154 rs2080651364 0.1705 None gnomAD-4.0.0 6.57073E-06
5615 73 M/I 155 None 0.1949 None gnomAD-4.0.0 1.20032E-06
5615 73 M/L 155 rs1392126225 0.1949 None gnomAD-4.0.0 1.59146E-06
5615 73 M/T 155 rs760133132 0.1949 None gnomAD-2.1.1 1.61E-05
5615 73 M/T 155 rs760133132 0.1949 None gnomAD-3.1.2 3.94E-05
5615 73 M/T 155 rs760133132 0.1949 None gnomAD-4.0.0 1.23944E-05
5616 74 C/R 156 None 0.0622 None gnomAD-4.0.0 1.20032E-06
5616 74 C/Y 156 rs1170057251 0.0622 None gnomAD-3.1.2 6.57E-06
5616 74 C/Y 156 rs1170057251 0.0622 None gnomAD-4.0.0 2.02985E-06
5618 76 A/V 158 rs774980198 0.0935 None gnomAD-2.1.1 1.61E-05
5618 76 A/V 158 rs774980198 0.0935 None gnomAD-3.1.2 6.57E-06
5618 76 A/V 158 rs774980198 0.0935 None gnomAD-4.0.0 6.19878E-06
5619 77 Q/E 159 None 0.5046 None gnomAD-4.0.0 1.59288E-06
5620 78 N/S 161 rs747660270 0.1901 None gnomAD-2.1.1 4.03E-06
5620 78 N/S 161 rs747660270 0.1901 None gnomAD-4.0.0 1.5932E-06
5622 80 A/S 163 rs1212075565 0.7564 None gnomAD-2.1.1 4.03E-06
5622 80 A/S 163 rs1212075565 0.7564 None gnomAD-3.1.2 1.31E-05
5622 80 A/S 163 rs1212075565 0.7564 None gnomAD-4.0.0 6.8213E-06
5622 80 A/V 163 None 0.7564 None gnomAD-4.0.0 1.20032E-06
5623 81 G/D 164 None 0.3096 None gnomAD-4.0.0 6.84853E-07
5623 81 G/V 164 rs768364912 0.3096 None gnomAD-2.1.1 2.02E-05
5623 81 G/V 164 rs768364912 0.3096 None gnomAD-4.0.0 5.47882E-06
5624 82 S/N 165 None 0.5145 None gnomAD-4.0.0 1.20032E-06
5624 82 S/T 165 None 0.5145 None gnomAD-4.0.0 6.00161E-06
5625 83 D/E 166 rs794729612 0.2194 None gnomAD-4.0.0 1.20032E-06
5625 83 D/V 166 rs746590786 0.2194 None gnomAD-2.1.1 1.43E-05
5625 83 D/V 166 rs746590786 0.2194 None gnomAD-3.1.2 6.57E-06
5625 83 D/V 166 rs746590786 0.2194 None gnomAD-4.0.0 2.85399E-05
5626 84 H/D 168 rs1226327061 0.6583 None gnomAD-2.1.1 4.04E-06
5626 84 H/D 168 rs1226327061 0.6583 None gnomAD-4.0.0 3.42588E-06
5626 84 H/Y 168 None 0.6583 None gnomAD-4.0.0 6.85176E-07
5627 85 C/R 169 rs779925659 0.0960 None gnomAD-2.1.1 1.21E-05
5627 85 C/R 169 rs779925659 0.0960 None gnomAD-3.1.2 1.31E-05
5627 85 C/R 169 rs779925659 0.0960 None gnomAD-4.0.0 3.72368E-06
5628 86 S/G 171 None 0.3331 None gnomAD-4.0.0 1.59846E-06
5628 86 S/N 171 None 0.3331 None gnomAD-4.0.0 3.19927E-06
5628 86 S/R 171 None 0.3331 None gnomAD-4.0.0 2.40064E-06
5629 87 S/N 172 rs758096327 0.1133 None gnomAD-2.1.1 4.06E-06
5629 87 S/N 172 rs758096327 0.1133 None gnomAD-4.0.0 6.40629E-06
5630 88 I/T 173 rs2080640128 0.4960 None gnomAD-4.0.0 2.75152E-06
5631 89 V/I 174 rs778807865 0.1330 None gnomAD-2.1.1 1.64E-05
5631 89 V/I 174 rs778807865 0.1330 None gnomAD-3.1.2 1.31E-05
5631 89 V/I 174 rs778807865 0.1330 None gnomAD-4.0.0 1.55489E-05
5632 90 I/R 175 None 0.3961 None gnomAD-4.0.0 6.88696E-07
5632 90 I/T 175 rs727504971 0.3961 None gnomAD-3.1.2 1.31E-05
5632 90 I/T 175 rs727504971 0.3961 None gnomAD-4.0.0 1.87008E-06
5633 91 V/I 177 None 0.1003 None gnomAD-4.0.0 1.61996E-06