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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
T P G P V V D L K V R S V S K S S C S I G W K K P H S D G G S R I I G Y V V D F L T E E N K W Q R V M K S L S L Q Y S A K D L T E G K E Y T F R V S A E N E N G E G T P S E I T V V A R D D V V A P D L D L K G L P D L C Y L A K E N S N F R L K I P I K G K P A P S V S W K K G E D P L A T D T R V S V E S S A V N T T L I V Y D C Q K S D A G K Y T I T L K N V A G T K E G T I S I K V V
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Y L A K E N S N F R L K I P I K G K P A P S V S W K K G E D P L A T D T R V S V E S S A V N T T L I V Y D C Q K S D A G K Y T I T L K N V A G T K E G T I S I K - 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
22561 2 L/F 14 rs876658076 0.6825 None gnomAD-4.0.0 1.38023E-06
22562 3 A/D 16 rs776797528 0.1140 None gnomAD-2.1.1 1.65E-05
22562 3 A/D 16 rs776797528 0.1140 None gnomAD-4.0.0 1.13188E-05
22562 3 A/P 16 rs747962210 0.1140 None gnomAD-2.1.1 4.15E-06
22562 3 A/P 16 rs747962210 0.1140 None gnomAD-4.0.0 1.62293E-06
22564 5 E/D 23 None 0.3395 None gnomAD-4.0.0 1.6116E-06
22564 5 E/G 23 rs559039977 0.3395 None gnomAD-2.1.1 4.1E-06
22564 5 E/G 23 rs559039977 0.3395 None gnomAD-3.1.2 6.57E-06
22564 5 E/G 23 rs559039977 0.3395 None 1000 genomes 1.99681E-04
22564 5 E/G 23 rs559039977 0.3395 None gnomAD-4.0.0 6.56987E-06
22564 5 E/K 23 rs2047149895 0.3395 None gnomAD-3.1.2 6.58E-06
22564 5 E/K 23 rs2047149895 0.3395 None gnomAD-4.0.0 6.57748E-06
22565 6 N/K 24 None 0.6564 None gnomAD-4.0.0 6.87856E-07
22567 8 N/D 26 rs2047147885 0.5374 None gnomAD-4.0.0 6.43318E-06
22567 8 N/S 26 None 0.5374 None gnomAD-4.0.0 1.37442E-06
22569 10 R/Q 29 rs185620750 0.5231 None gnomAD-2.1.1 1.62599E-04
22569 10 R/Q 29 rs185620750 0.5231 None gnomAD-3.1.2 2.82876E-04
22569 10 R/Q 29 rs185620750 0.5231 None 1000 genomes 1.99681E-04
22569 10 R/Q 29 rs185620750 0.5231 None gnomAD-4.0.0 7.40089E-05
22569 10 R/W 29 rs746313264 0.5231 None gnomAD-2.1.1 3.97E-05
22569 10 R/W 29 rs746313264 0.5231 None gnomAD-3.1.2 5.26E-05
22569 10 R/W 29 rs746313264 0.5231 None gnomAD-4.0.0 3.04839E-05
22570 11 L/F 30 rs1198941645 0.1735 None gnomAD-2.1.1 3.19E-05
22570 11 L/F 30 rs1198941645 0.1735 None gnomAD-3.1.2 6.58E-06
22570 11 L/F 30 rs1198941645 0.1735 None gnomAD-4.0.0 6.57756E-06
22570 11 L/V 30 rs1198941645 0.1735 None gnomAD-2.1.1 4.06E-06
22570 11 L/V 30 rs1198941645 0.1735 None gnomAD-4.0.0 1.60501E-06
22571 12 K/M 31 None 0.5281 None gnomAD-4.0.0 1.60181E-06
22571 12 K/N 31 None 0.5281 None gnomAD-4.0.0 1.20032E-06
22572 13 I/F 33 rs779301386 0.1422 None gnomAD-2.1.1 4.05E-06
22572 13 I/F 33 rs779301386 0.1422 None gnomAD-4.0.0 1.60123E-06
22573 14 P/S 34 rs767245563 0.4013 None gnomAD-2.1.1 4.04E-06
22573 14 P/S 34 rs767245563 0.4013 None gnomAD-4.0.0 1.60013E-06
22574 15 I/M 35 None 0.1179 None gnomAD-4.0.0 6.85482E-07
22574 15 I/V 35 rs754723277 0.1179 None gnomAD-2.1.1 4.04E-06
22574 15 I/V 35 rs754723277 0.1179 None gnomAD-4.0.0 3.19679E-06
22576 17 G/S 40 rs751016349 0.1931 None gnomAD-2.1.1 2.42E-05
22576 17 G/S 40 rs751016349 0.1931 None gnomAD-3.1.2 4.6E-05
22576 17 G/S 40 rs751016349 0.1931 None gnomAD-4.0.0 1.67572E-05
22581 22 S/T 45 rs1318211232 0.4628 None gnomAD-3.1.2 1.32E-05
22581 22 S/T 45 rs1318211232 0.4628 None gnomAD-4.0.0 5.12877E-06
22582 23 V/A 46 None 0.3024 None gnomAD-4.0.0 2.40064E-06
22583 24 S/Y 47 None 0.4323 None gnomAD-4.0.0 1.20032E-06
22584 25 W/C 48 rs750330303 0.2027 None gnomAD-2.1.1 8.05E-06
22584 25 W/C 48 rs750330303 0.2027 None gnomAD-4.0.0 2.05326E-06
22584 25 W/G 48 rs762387858 0.2027 None gnomAD-2.1.1 7.15E-06
22584 25 W/G 48 rs762387858 0.2027 None gnomAD-3.1.2 1.32E-05
22584 25 W/G 48 rs762387858 0.2027 None gnomAD-4.0.0 5.57914E-06
22585 26 K/N 49 rs2047135173 0.3709 None gnomAD-4.0.0 1.20032E-06
22585 26 K/R 49 None 0.3709 None gnomAD-4.0.0 1.36881E-06
22586 27 K/T 50 None 0.2247 None gnomAD-4.0.0 3.18452E-06
22588 29 E/K 52 None 0.7362 None gnomAD-4.0.0 1.59225E-06
22589 30 D/V 55 None 0.7001 None gnomAD-4.0.0 6.00161E-06
22591 32 L/V 58 None 0.2236 None gnomAD-4.0.0 6.84365E-07
22592 33 A/E 69 None 0.6202 None gnomAD-4.0.0 2.73748E-06
22592 33 A/S 69 rs761567421 0.6202 None gnomAD-2.1.1 4.02E-06
22592 33 A/S 69 rs761567421 0.6202 None gnomAD-4.0.0 1.36872E-06
22592 33 A/V 69 rs776461045 0.6202 None gnomAD-2.1.1 4.02E-06
22592 33 A/V 69 rs776461045 0.6202 None gnomAD-4.0.0 1.36874E-06
22593 34 T/S 70 None 0.5591 None gnomAD-4.0.0 1.20032E-06
22594 35 D/V 73 rs369911767 0.4284 None gnomAD-2.1.1 2.41E-05
22594 35 D/V 73 rs369911767 0.4284 None gnomAD-3.1.2 8.55E-05
22594 35 D/V 73 rs369911767 0.4284 None gnomAD-4.0.0 1.36365E-05
22595 36 T/A 102 rs1438797997 0.9476 None gnomAD-3.1.2 6.58E-06
22595 36 T/A 102 rs1438797997 0.9476 None gnomAD-4.0.0 4.33886E-06
22596 37 R/G 115 rs761026013 0.2007 None gnomAD-2.1.1 8.04E-06
22596 37 R/G 115 rs761026013 0.2007 None gnomAD-4.0.0 4.7905E-06
22596 37 R/T 115 rs1197078573 0.2007 None gnomAD-2.1.1 4.02E-06
22596 37 R/T 115 rs1197078573 0.2007 None gnomAD-4.0.0 3.18399E-06
22598 39 S/R 122 rs960274505 0.2729 None gnomAD-2.1.1 1.61E-05
22598 39 S/R 122 rs960274505 0.2729 None gnomAD-3.1.2 6.57E-06
22598 39 S/R 122 rs960274505 0.2729 None gnomAD-4.0.0 6.57497E-06
22598 39 S/T 122 None 0.2729 None gnomAD-4.0.0 1.59194E-06
22600 41 E/K 125 None 0.4487 None gnomAD-4.0.0 6.84331E-07
22601 42 S/T 127 rs1035871236 0.4589 None gnomAD-3.1.2 6.58E-06
22601 42 S/T 127 rs1035871236 0.4589 None gnomAD-4.0.0 6.5773E-06
22602 43 S/C 130 None 0.3170 None gnomAD-4.0.0 8.40227E-06
22602 43 S/F 130 None 0.3170 None gnomAD-4.0.0 2.40065E-06
22602 43 S/P 130 rs780276317 0.3170 None gnomAD-4.0.0 1.59188E-06
22603 44 A/V 131 rs199583938 0.5595 None gnomAD-2.1.1 4.64E-05
22603 44 A/V 131 rs199583938 0.5595 None gnomAD-3.1.2 9.87E-05
22603 44 A/V 131 rs199583938 0.5595 None gnomAD-4.0.0 3.96696E-05
22607 48 T/I 137 rs771603862 0.1223 None gnomAD-2.1.1 4.83E-05
22607 48 T/I 137 rs771603862 0.1223 None gnomAD-3.1.2 2.63E-05
22607 48 T/I 137 rs771603862 0.1223 None gnomAD-4.0.0 2.41736E-05
22608 49 L/F 138 rs749645303 0.1010 None gnomAD-4.0.0 1.59189E-06
22609 50 I/M 139 rs751153093 0.1423 None gnomAD-2.1.1 1.21E-05
22609 50 I/M 139 rs751153093 0.1423 None gnomAD-4.0.0 8.89618E-06
22609 50 I/R 139 None 0.1423 None gnomAD-4.0.0 6.8433E-07
22609 50 I/T 139 rs778337241 0.1423 None gnomAD-2.1.1 2.41E-05
22609 50 I/T 139 rs778337241 0.1423 None gnomAD-3.1.2 6.58E-06
22609 50 I/T 139 rs778337241 0.1423 None gnomAD-4.0.0 1.61156E-05
22610 51 V/M 140 None 0.0843 None gnomAD-4.0.0 3.18377E-06
22612 53 D/G 143 None 0.5469 None gnomAD-4.0.0 1.59178E-06
22612 53 D/N 143 rs757888367 0.5469 None gnomAD-2.1.1 1.21E-05
22612 53 D/N 143 rs757888367 0.5469 None gnomAD-3.1.2 1.32E-05
22612 53 D/N 143 rs757888367 0.5469 None gnomAD-4.0.0 2.1074E-05
22615 56 K/I 146 rs372296363 0.6228 None gnomAD-2.1.1 4.02E-06
22615 56 K/I 146 rs372296363 0.6228 None gnomAD-4.0.0 9.55098E-06
22617 58 D/H 149 None 0.1644 None gnomAD-4.0.0 1.59181E-06
22618 59 A/T 151 None 0.2561 None gnomAD-4.0.0 1.59182E-06
22619 60 G/E 152 rs886055252 0.2736 None gnomAD-4.0.0 2.40065E-06
22621 62 Y/C 154 None 0.1304 None gnomAD-4.0.0 1.59198E-06
22622 63 T/A 155 None 0.2231 None gnomAD-4.0.0 3.18415E-06
22623 64 I/N 156 rs765139811 0.1132 None gnomAD-2.1.1 4.02E-06
22623 64 I/N 156 rs765139811 0.1132 None gnomAD-4.0.0 6.84343E-07
22623 64 I/S 156 None 0.1132 None gnomAD-4.0.0 6.84343E-07
22623 64 I/T 156 None 0.1132 None gnomAD-4.0.0 2.73737E-06
22624 65 T/I 157 None 0.2411 None gnomAD-4.0.0 1.59209E-06
22624 65 T/K 157 rs761798459 0.2411 None gnomAD-2.1.1 4.02E-06
22624 65 T/K 157 rs761798459 0.2411 None gnomAD-4.0.0 1.59209E-06
22625 66 L/V 158 rs753627819 0.1070 None gnomAD-2.1.1 4.02E-06
22625 66 L/V 158 rs753627819 0.1070 None gnomAD-4.0.0 1.59208E-06
22626 67 K/E 159 rs763810229 0.5925 None gnomAD-2.1.1 4.02E-06
22626 67 K/E 159 rs763810229 0.5925 None gnomAD-4.0.0 8.21192E-06
22627 68 N/D 161 None 0.1217 None gnomAD-4.0.0 1.59202E-06
22627 68 N/K 161 rs561184293 0.1217 None gnomAD-2.1.1 1.21E-05
22627 68 N/K 161 rs561184293 0.1217 None gnomAD-3.1.2 6.58E-06
22627 68 N/K 161 rs561184293 0.1217 None 1000 genomes 1.99681E-04
22627 68 N/K 161 rs561184293 0.1217 None gnomAD-4.0.0 6.81767E-06
22628 69 V/A 162 None 0.7595 None gnomAD-4.0.0 4.10603E-06
22628 69 V/I 162 rs775731759 0.7595 None gnomAD-2.1.1 7.15E-06
22628 69 V/I 162 rs775731759 0.7595 None gnomAD-3.1.2 3.29E-05
22628 69 V/I 162 rs775731759 0.7595 None gnomAD-4.0.0 7.6901E-06
22632 73 K/R 166 None 0.3929 None gnomAD-4.0.0 1.20032E-06
22633 74 E/K 168 None 0.5307 None gnomAD-4.0.0 1.59204E-06
22635 76 T/N 171 None 0.3449 None gnomAD-4.0.0 3.42178E-06
22635 76 T/S 171 rs1465804178 0.3449 None gnomAD-3.1.2 6.58E-06
22635 76 T/S 171 rs1465804178 0.3449 None gnomAD-4.0.0 6.57626E-06
22636 77 I/L 172 rs1239261963 0.1523 None gnomAD-2.1.1 3.19E-05
22636 77 I/L 172 rs1239261963 0.1523 None gnomAD-3.1.2 6.57E-06
22636 77 I/L 172 rs1239261963 0.1523 None gnomAD-4.0.0 6.57479E-06
22637 78 S/C 173 rs1233992072 0.2833 None gnomAD-2.1.1 4.03E-06
22637 78 S/C 173 rs1233992072 0.2833 None gnomAD-4.0.0 1.59214E-06
22638 79 I/K 174 rs2047107763 0.1063 None gnomAD-4.0.0 1.20032E-06
22638 79 I/V 174 rs1300737822 0.1063 None gnomAD-3.1.2 6.58E-06
22638 79 I/V 174 rs1300737822 0.1063 None gnomAD-4.0.0 6.5754E-06
22640 81 V/A 177 rs1060500506 0.4740 None gnomAD-4.0.0 1.16343E-05
22640 81 V/F 177 rs750093105 0.4740 None gnomAD-4.0.0 1.36873E-06
22640 81 V/I 177 rs750093105 0.4740 None gnomAD-2.1.1 4.03E-06
22640 81 V/I 177 rs750093105 0.4740 None gnomAD-4.0.0 1.16342E-05