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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22561 2 L/F 14 rs876658076 0.7246 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 0.2226 None gnomAD-2.1.1 3.19E-05
22570 11 L/F 30 rs1198941645 0.2226 None gnomAD-3.1.2 6.58E-06
22570 11 L/F 30 rs1198941645 0.2226 None gnomAD-4.0.0 6.57756E-06
22570 11 L/V 30 rs1198941645 0.2226 None gnomAD-2.1.1 4.06E-06
22570 11 L/V 30 rs1198941645 0.2226 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 0.2959 None gnomAD-2.1.1 4.05E-06
22572 13 I/F 33 rs779301386 0.2959 None gnomAD-4.0.0 1.60123E-06
22573 14 P/S 34 rs767245563 0.6522 None gnomAD-2.1.1 4.04E-06
22573 14 P/S 34 rs767245563 0.6522 None gnomAD-4.0.0 1.60013E-06
22574 15 I/M 35 None 0.1544 None gnomAD-4.0.0 6.85482E-07
22574 15 I/V 35 rs754723277 0.1544 None gnomAD-2.1.1 4.04E-06
22574 15 I/V 35 rs754723277 0.1544 None gnomAD-4.0.0 3.19679E-06
22576 17 G/S 40 rs751016349 0.3685 None gnomAD-2.1.1 2.42E-05
22576 17 G/S 40 rs751016349 0.3685 None gnomAD-3.1.2 4.6E-05
22576 17 G/S 40 rs751016349 0.3685 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 0.1426 None gnomAD-2.1.1 4.02E-06
22623 64 I/N 156 rs765139811 0.1426 None gnomAD-4.0.0 6.84343E-07
22623 64 I/S 156 None 0.1426 None gnomAD-4.0.0 6.84343E-07
22623 64 I/T 156 None 0.1426 None gnomAD-4.0.0 2.73737E-06
22624 65 T/I 157 None 0.2419 None gnomAD-4.0.0 1.59209E-06
22624 65 T/K 157 rs761798459 0.2419 None gnomAD-2.1.1 4.02E-06
22624 65 T/K 157 rs761798459 0.2419 None gnomAD-4.0.0 1.59209E-06
22625 66 L/V 158 rs753627819 0.2396 None gnomAD-2.1.1 4.02E-06
22625 66 L/V 158 rs753627819 0.2396 None gnomAD-4.0.0 1.59208E-06
22626 67 K/E 159 rs763810229 0.6011 None gnomAD-2.1.1 4.02E-06
22626 67 K/E 159 rs763810229 0.6011 None gnomAD-4.0.0 8.21192E-06
22627 68 N/D 161 None 0.2015 None gnomAD-4.0.0 1.59202E-06
22627 68 N/K 161 rs561184293 0.2015 None gnomAD-2.1.1 1.21E-05
22627 68 N/K 161 rs561184293 0.2015 None gnomAD-3.1.2 6.58E-06
22627 68 N/K 161 rs561184293 0.2015 None 1000 genomes 1.99681E-04
22627 68 N/K 161 rs561184293 0.2015 None gnomAD-4.0.0 6.81767E-06
22628 69 V/A 162 None 0.8339 None gnomAD-4.0.0 4.10603E-06
22628 69 V/I 162 rs775731759 0.8339 None gnomAD-2.1.1 7.15E-06
22628 69 V/I 162 rs775731759 0.8339 None gnomAD-3.1.2 3.29E-05
22628 69 V/I 162 rs775731759 0.8339 None gnomAD-4.0.0 7.6901E-06
22632 73 K/R 166 None 0.6800 None gnomAD-4.0.0 1.20032E-06
22633 74 E/K 168 None 0.5697 None gnomAD-4.0.0 1.59204E-06
22635 76 T/N 171 None 0.4569 None gnomAD-4.0.0 3.42178E-06
22635 76 T/S 171 rs1465804178 0.4569 None gnomAD-3.1.2 6.58E-06
22635 76 T/S 171 rs1465804178 0.4569 None gnomAD-4.0.0 6.57626E-06
22636 77 I/L 172 rs1239261963 0.3368 None gnomAD-2.1.1 3.19E-05
22636 77 I/L 172 rs1239261963 0.3368 None gnomAD-3.1.2 6.57E-06
22636 77 I/L 172 rs1239261963 0.3368 None gnomAD-4.0.0 6.57479E-06
22637 78 S/C 173 rs1233992072 0.4515 None gnomAD-2.1.1 4.03E-06
22637 78 S/C 173 rs1233992072 0.4515 None gnomAD-4.0.0 1.59214E-06
22638 79 I/K 174 rs2047107763 0.1083 None gnomAD-4.0.0 1.20032E-06
22638 79 I/V 174 rs1300737822 0.1083 None gnomAD-3.1.2 6.58E-06
22638 79 I/V 174 rs1300737822 0.1083 None gnomAD-4.0.0 6.5754E-06
22640 81 V/A 177 rs1060500506 0.1892 None gnomAD-4.0.0 1.16343E-05
22640 81 V/F 177 rs750093105 0.1892 None gnomAD-4.0.0 1.36873E-06
22640 81 V/I 177 rs750093105 0.1892 None gnomAD-2.1.1 4.03E-06
22640 81 V/I 177 rs750093105 0.1892 None gnomAD-4.0.0 1.16342E-05