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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2533 1 I/M 1 None 0.4135 None gnomAD-4.0.0 1.59087E-06
2533 1 I/N 1 rs1247030843 0.4135 None gnomAD-2.1.1 4.01E-06
2533 1 I/N 1 rs1247030843 0.4135 None gnomAD-4.0.0 1.59088E-06
2533 1 I/V 1 rs372407708 0.4135 None gnomAD-2.1.1 2.14E-05
2533 1 I/V 1 rs372407708 0.4135 None gnomAD-3.1.2 6.57E-05
2533 1 I/V 1 rs372407708 0.4135 None gnomAD-4.0.0 1.11524E-05
2534 2 K/E 2 rs767167863 0.7993 None gnomAD-2.1.1 1.2E-05
2534 2 K/E 2 rs767167863 0.7993 None gnomAD-4.0.0 6.36343E-06
2536 4 I/M 4 None 0.3981 None gnomAD-4.0.0 6.84141E-07
2536 4 I/S 4 None 0.3981 None gnomAD-4.0.0 1.59086E-06
2537 5 R/S 5 None 0.3529 None gnomAD-4.0.0 6.84136E-07
2538 6 G/D 7 rs1274574174 0.2516 None gnomAD-2.1.1 4E-06
2538 6 G/D 7 rs1274574174 0.2516 None gnomAD-3.1.2 1.31E-05
2538 6 G/D 7 rs1274574174 0.2516 None gnomAD-4.0.0 9.29476E-06
2538 6 G/V 7 None 0.2516 None gnomAD-4.0.0 1.36828E-06
2540 8 R/C 9 rs368574470 0.6716 None gnomAD-2.1.1 5.69E-05
2540 8 R/C 9 rs368574470 0.6716 None gnomAD-3.1.2 1.05187E-04
2540 8 R/C 9 rs368574470 0.6716 None gnomAD-4.0.0 1.00996E-04
2540 8 R/H 9 None 0.6716 None gnomAD-2.1.1 4E-05
2540 8 R/H 9 None 0.6716 None gnomAD-3.1.2 4.6E-05
2540 8 R/H 9 None 0.6716 None gnomAD-4.0.0 1.22078E-04
2540 8 R/P 9 rs397517725 0.6716 None gnomAD-2.1.1 4E-06
2540 8 R/P 9 rs397517725 0.6716 None gnomAD-4.0.0 3.42065E-06
2541 9 D/E 11 rs2091808805 0.2287 None gnomAD-4.0.0 1.20032E-06
2541 9 D/Y 11 rs1462842843 0.2287 None gnomAD-4.0.0 3.18167E-06
2542 10 L/I 13 rs762722498 0.3410 None gnomAD-2.1.1 4E-06
2542 10 L/I 13 rs762722498 0.3410 None gnomAD-3.1.2 6.57E-06
2542 10 L/I 13 rs762722498 0.3410 None gnomAD-4.0.0 1.85896E-06
2542 10 L/P 13 None 0.3410 None gnomAD-4.0.0 1.59082E-06
2543 11 T/I 14 rs765136135 0.9588 None gnomAD-2.1.1 1.07E-05
2543 11 T/I 14 rs765136135 0.9588 None gnomAD-3.1.2 3.94E-05
2543 11 T/I 14 rs765136135 0.9588 None gnomAD-4.0.0 6.19647E-06
2543 11 T/N 14 None 0.9588 None gnomAD-4.0.0 3.42066E-06
2543 11 T/S 14 rs765136135 0.9588 None gnomAD-2.1.1 2.84E-05
2543 11 T/S 14 rs765136135 0.9588 None gnomAD-3.1.2 8.55E-05
2543 11 T/S 14 rs765136135 0.9588 None gnomAD-4.0.0 4.77248E-06
2544 12 C/Y 16 rs1271799350 0.3701 None gnomAD-4.0.0 1.59084E-06
2545 13 T/A 18 rs761827668 0.7229 None gnomAD-2.1.1 3.18E-05
2545 13 T/A 18 rs761827668 0.7229 None gnomAD-3.1.2 6.57E-06
2545 13 T/A 18 rs761827668 0.7229 None gnomAD-4.0.0 2.56155E-06
2545 13 T/I 18 rs1016165797 0.7229 None gnomAD-2.1.1 1.06E-05
2545 13 T/I 18 rs1016165797 0.7229 None gnomAD-3.1.2 1.97E-05
2545 13 T/I 18 rs1016165797 0.7229 None gnomAD-4.0.0 1.67306E-05
2545 13 T/R 18 None 0.7229 None gnomAD-4.0.0 1.36826E-06
2545 13 T/S 18 rs761827668 0.7229 None gnomAD-2.1.1 3.99E-06
2545 13 T/S 18 rs761827668 0.7229 None gnomAD-4.0.0 1.59081E-06
2546 14 E/D 23 None 0.6799 None gnomAD-4.0.0 1.20032E-06
2547 15 T/A 24 rs984424988 0.7230 None gnomAD-4.0.0 1.20032E-06
2547 15 T/I 24 None 0.7230 None gnomAD-4.0.0 3.18168E-06
2548 16 Q/H 25 None 0.3949 None gnomAD-4.0.0 1.20032E-06
2548 16 Q/R 25 rs2091804454 0.3949 None gnomAD-4.0.0 2.40065E-06
2549 17 N/H 26 rs1277824720 0.5560 None gnomAD-3.1.2 1.31E-05
2549 17 N/H 26 rs1277824720 0.5560 None gnomAD-4.0.0 1.31425E-05
2550 18 V/M 28 None 0.1784 None gnomAD-4.0.0 1.20033E-06
2551 19 V/L 29 None 0.4029 None gnomAD-4.0.0 6.8413E-07
2551 19 V/M 29 None 0.4029 None gnomAD-4.0.0 6.8413E-07
2552 20 F/L 30 None 0.1423 None gnomAD-4.0.0 1.59087E-06
2552 20 F/S 30 rs1308781409 0.1423 None gnomAD-2.1.1 3.99E-06
2552 20 F/S 30 rs1308781409 0.1423 None gnomAD-4.0.0 1.59086E-06
2553 21 E/A 31 rs367621583 0.2467 None gnomAD-2.1.1 3.99E-06
2553 21 E/A 31 rs367621583 0.2467 None gnomAD-3.1.2 6.57E-06
2553 21 E/A 31 rs367621583 0.2467 None gnomAD-4.0.0 2.5618E-06
2554 22 V/I 33 None 0.0744 None gnomAD-4.0.0 6.84144E-07
2554 22 V/L 33 None 0.0744 None gnomAD-4.0.0 6.84144E-07
2555 23 E/K 34 None 0.2787 None gnomAD-4.0.0 1.20033E-06
2557 25 S/F 38 None 0.1694 None gnomAD-4.0.0 6.84132E-07
2557 25 S/Y 38 None 0.1694 None gnomAD-4.0.0 6.84132E-07
2558 26 H/R 40 rs1175796012 0.5225 None gnomAD-2.1.1 3.99E-06
2558 26 H/R 40 rs1175796012 0.5225 None gnomAD-4.0.0 2.05241E-06
2559 27 S/Y 42 None 0.5094 None gnomAD-4.0.0 1.20032E-06
2561 29 I/M 44 None 0.2486 None gnomAD-4.0.0 1.59086E-06
2561 29 I/T 44 rs747031357 0.2486 None gnomAD-2.1.1 2.13E-05
2561 29 I/T 44 rs747031357 0.2486 None gnomAD-3.1.2 1.31E-05
2561 29 I/T 44 rs747031357 0.2486 None gnomAD-4.0.0 1.98277E-05
2562 30 D/E 45 None 0.9017 None gnomAD-4.0.0 1.59088E-06
2562 30 D/G 45 rs2091799786 0.9017 None gnomAD-4.0.0 1.20033E-06
2563 31 V/D 46 rs775758080 0.1970 None gnomAD-2.1.1 7.98E-06
2563 31 V/D 46 rs775758080 0.1970 None gnomAD-4.0.0 3.18177E-06
2566 34 N/D 49 None 0.1940 None gnomAD-4.0.0 1.59095E-06
2568 36 K/Q 51 rs746270312 0.2924 None gnomAD-2.1.1 3.18E-05
2568 36 K/Q 51 rs746270312 0.2924 None gnomAD-3.1.2 1.31E-05
2568 36 K/Q 51 rs746270312 0.2924 None gnomAD-4.0.0 3.09829E-06
2568 36 K/R 51 None 0.2924 None gnomAD-4.0.0 1.20032E-06
2569 37 D/E 52 rs2091797689 0.8379 None gnomAD-4.0.0 1.59094E-06
2569 37 D/V 52 None 0.8379 None gnomAD-4.0.0 1.20032E-06
2570 38 K/E 55 rs779361884 0.7850 None gnomAD-2.1.1 2E-05
2570 38 K/E 55 rs779361884 0.7850 None gnomAD-4.0.0 6.84154E-06
2570 38 K/M 55 None 0.7850 None gnomAD-4.0.0 1.20033E-06
2570 38 K/Q 55 rs779361884 0.7850 None gnomAD-4.0.0 6.84154E-07
2571 39 E/K 56 rs149660690 0.4940 None gnomAD-2.1.1 5.68E-05
2571 39 E/K 56 rs149660690 0.4940 None gnomAD-3.1.2 1.6442E-04
2571 39 E/K 56 rs149660690 0.4940 None 1000 genomes 1.19808E-03
2571 39 E/K 56 rs149660690 0.4940 None gnomAD-4.0.0 3.34608E-05
2571 39 E/V 56 None 0.4940 None gnomAD-4.0.0 1.59096E-06
2572 40 I/M 58 rs749818939 0.1296 None gnomAD-2.1.1 3.99E-06
2572 40 I/M 58 rs749818939 0.1296 None gnomAD-4.0.0 3.42082E-06
2573 41 K/N 59 rs2091795391 0.6004 None gnomAD-4.0.0 6.84166E-07
2573 41 K/R 59 rs113405975 0.6004 None gnomAD-4.0.0 1.20032E-06
2575 43 S/C 73 rs1469009599 0.2793 None gnomAD-2.1.1 3.18E-05
2575 43 S/C 73 rs1469009599 0.2793 None gnomAD-3.1.2 6.57E-06
2575 43 S/C 73 rs1469009599 0.2793 None gnomAD-4.0.0 6.57117E-06
2575 43 S/G 73 None 0.2793 None gnomAD-4.0.0 1.591E-06
2576 44 S/P 111 rs1192243429 0.8768 None gnomAD-3.1.2 6.57E-06
2576 44 S/P 111 rs1192243429 0.8768 None gnomAD-4.0.0 6.57376E-06
2576 44 S/Y 111 rs1420811529 0.8768 None gnomAD-4.0.0 1.20033E-06
2577 45 K/Q 115 None 0.1634 None gnomAD-4.0.0 1.20032E-06
2577 45 K/R 115 rs1312348465 0.1634 None gnomAD-2.1.1 7.99E-06
2577 45 K/R 115 rs1312348465 0.1634 None gnomAD-4.0.0 9.54651E-06
2578 46 Y/D 121 None 0.2210 None gnomAD-4.0.0 6.84179E-07
2578 46 Y/H 121 rs754592016 0.2210 None gnomAD-2.1.1 2.8E-05
2578 46 Y/H 121 rs754592016 0.2210 None gnomAD-4.0.0 8.21015E-06
2579 47 K/E 122 None 0.4664 None gnomAD-4.0.0 2.05255E-06
2579 47 K/R 122 rs1222416655 0.4664 None gnomAD-2.1.1 4E-06
2579 47 K/R 122 rs1222416655 0.4664 None gnomAD-4.0.0 1.36836E-06
2580 48 I/M 123 rs146590898 0.2925 None gnomAD-2.1.1 1.13649E-03
2580 48 I/M 123 rs146590898 0.2925 None gnomAD-3.1.2 3.47131E-03
2580 48 I/M 123 rs146590898 0.2925 None 1000 genomes 3.59425E-03
2580 48 I/M 123 rs146590898 0.2925 None gnomAD-4.0.0 6.33899E-04
2580 48 I/T 123 rs1554000030 0.2925 None gnomAD-4.0.0 3.18219E-06
2580 48 I/V 123 rs753963679 0.2925 None gnomAD-3.1.2 6.57E-06
2580 48 I/V 123 rs753963679 0.2925 None gnomAD-4.0.0 8.67537E-06
2582 50 A/G 127 rs2091790916 0.3974 None gnomAD-4.0.0 6.842E-07
2582 50 A/T 127 rs1060500576 0.3974 None gnomAD-4.0.0 2.40066E-06
2582 50 A/V 127 None 0.3974 None gnomAD-4.0.0 5.4736E-06
2583 51 H/R 130 rs2091790336 0.6395 None gnomAD-4.0.0 1.36838E-06
2583 51 H/Y 130 rs367582681 0.6395 None gnomAD-2.1.1 7.99E-06
2583 51 H/Y 130 rs367582681 0.6395 None gnomAD-3.1.2 6.58E-06
2583 51 H/Y 130 rs367582681 0.6395 None gnomAD-4.0.0 3.09888E-06
2584 52 G/E 131 None 0.4321 None gnomAD-4.0.0 1.59125E-06
2585 53 K/N 134 rs2091789577 0.3289 None gnomAD-3.1.2 6.57E-06
2585 53 K/N 134 rs2091789577 0.3289 None gnomAD-4.0.0 6.57177E-06
2586 54 I/L 135 None 0.3044 None gnomAD-4.0.0 1.59126E-06
2586 54 I/M 135 rs556000493 0.3044 None gnomAD-2.1.1 2.95773E-04
2586 54 I/M 135 rs556000493 0.3044 None gnomAD-3.1.2 5.91E-05
2586 54 I/M 135 rs556000493 0.3044 None 1000 genomes 7.98722E-04
2586 54 I/M 135 rs556000493 0.3044 None gnomAD-4.0.0 1.25169E-04
2586 54 I/V 135 rs2091789026 0.3044 None gnomAD-3.1.2 6.57E-06
2586 54 I/V 135 rs2091789026 0.3044 None gnomAD-4.0.0 6.57091E-06
2587 55 Y/C 136 rs375047082 0.1364 None gnomAD-2.1.1 1.2E-05
2587 55 Y/C 136 rs375047082 0.1364 None gnomAD-3.1.2 1.31E-05
2587 55 Y/C 136 rs375047082 0.1364 None gnomAD-4.0.0 5.57716E-06
2588 56 K/N 137 rs1361032185 0.2734 None gnomAD-3.1.2 6.57E-06
2588 56 K/N 137 rs1361032185 0.2734 None gnomAD-4.0.0 6.57142E-06
2589 57 L/F 138 rs372080212 0.0654 None gnomAD-2.1.1 5.33E-05
2589 57 L/F 138 rs372080212 0.0654 None gnomAD-3.1.2 1.05193E-04
2589 57 L/F 138 rs372080212 0.0654 None gnomAD-4.0.0 1.92124E-05
2590 58 T/I 139 rs761445567 0.2333 None gnomAD-2.1.1 1.42E-05
2590 58 T/I 139 rs761445567 0.2333 None gnomAD-3.1.2 6.58E-06
2590 58 T/I 139 rs761445567 0.2333 None gnomAD-4.0.0 6.1976E-06
2591 59 V/I 140 None 0.0915 None gnomAD-4.0.0 1.36848E-06
2592 60 L/I 141 None 0.4227 None gnomAD-4.0.0 1.59125E-06
2593 61 N/S 143 None 0.6465 None gnomAD-4.0.0 1.59114E-06
2594 62 M/T 144 rs764016233 0.1241 None gnomAD-2.1.1 7.99E-06
2594 62 M/T 144 rs764016233 0.1241 None gnomAD-4.0.0 2.05273E-06
2594 62 M/V 144 rs913684550 0.1241 None gnomAD-3.1.2 6.57E-06
2594 62 M/V 144 rs913684550 0.1241 None gnomAD-4.0.0 3.09849E-06
2595 63 M/V 145 rs760786665 0.4728 None gnomAD-2.1.1 2.4E-05
2595 63 M/V 145 rs760786665 0.4728 None gnomAD-3.1.2 1.31E-05
2595 63 M/V 145 rs760786665 0.4728 None gnomAD-4.0.0 3.20247E-05
2598 66 D/V 149 None 0.1551 None gnomAD-4.0.0 8.4028E-06
2599 67 E/G 151 rs2091784595 0.4738 None gnomAD-3.1.2 6.57E-06
2599 67 E/G 151 rs2091784595 0.4738 None gnomAD-4.0.0 3.04488E-06
2599 67 E/V 151 rs2091784595 0.4738 None gnomAD-3.1.2 6.57E-06
2599 67 E/V 151 rs2091784595 0.4738 None gnomAD-4.0.0 6.56996E-06
2600 68 G/A 152 rs1574610507 0.2654 None gnomAD-4.0.0 6.84257E-07
2600 68 G/R 152 None 0.2654 None gnomAD-4.0.0 1.20039E-06
2601 69 K/N 153 rs988264686 0.3983 None gnomAD-2.1.1 3.99E-06
2601 69 K/N 153 rs988264686 0.3983 None gnomAD-4.0.0 1.59113E-06
2602 70 Y/C 154 None 0.1088 None gnomAD-4.0.0 1.59112E-06
2603 71 T/A 155 rs775528928 0.1168 None gnomAD-2.1.1 3.99E-06
2603 71 T/A 155 rs775528928 0.1168 None gnomAD-4.0.0 1.0263E-05
2603 71 T/I 155 None 0.1168 None gnomAD-4.0.0 1.59113E-06
2604 72 F/S 156 rs772001227 0.0724 None gnomAD-2.1.1 3.99E-06
2604 72 F/S 156 rs772001227 0.0724 None gnomAD-4.0.0 1.59108E-06
2605 73 Y/H 157 None 0.3088 None gnomAD-4.0.0 1.20033E-06
2606 74 A/G 158 None 0.1520 None gnomAD-4.0.0 6.8419E-07
2606 74 A/T 158 rs375286376 0.1520 None gnomAD-2.1.1 3.55E-05
2606 74 A/T 158 rs375286376 0.1520 None gnomAD-3.1.2 4.6E-05
2606 74 A/T 158 rs375286376 0.1520 None gnomAD-4.0.0 6.87847E-05
2606 74 A/V 158 rs370857722 0.1520 None gnomAD-2.1.1 6.74E-05
2606 74 A/V 158 rs370857722 0.1520 None gnomAD-3.1.2 7.23E-05
2606 74 A/V 158 rs370857722 0.1520 None gnomAD-4.0.0 6.75444E-05
2607 75 G/R 159 rs1214151889 0.4993 None gnomAD-4.0.0 1.20032E-06
2609 77 N/D 162 None 0.5128 None gnomAD-4.0.0 1.59106E-06
2610 78 M/I 163 rs56142888 0.4363 None gnomAD-2.1.1 7.52578E-02
2610 78 M/I 163 rs56142888 0.4363 None gnomAD-3.1.2 4.98239E-02
2610 78 M/I 163 rs56142888 0.4363 None 1000 genomes 7.54792E-02
2610 78 M/I 163 rs56142888 0.4363 None gnomAD-4.0.0 5.24191E-02
2610 78 M/L 163 None 0.4363 None gnomAD-4.0.0 6.84169E-07
2610 78 M/V 163 rs1331698925 0.4363 None gnomAD-2.1.1 3.99E-06
2610 78 M/V 163 rs1331698925 0.4363 None gnomAD-3.1.2 6.57E-06
2610 78 M/V 163 rs1331698925 0.4363 None gnomAD-4.0.0 1.85878E-06
2612 80 S/F 171 rs770391975 0.2966 None gnomAD-2.1.1 3.99E-06
2612 80 S/F 171 rs770391975 0.2966 None gnomAD-4.0.0 4.10506E-06
2612 80 S/P 171 rs558027818 0.2966 None gnomAD-3.1.2 6.57E-06
2612 80 S/P 171 rs558027818 0.2966 None 1000 genomes 1.99681E-04
2612 80 S/P 171 rs558027818 0.2966 None gnomAD-4.0.0 6.56737E-06
2613 81 G/E 172 None 0.1372 None gnomAD-4.0.0 1.20033E-06
2614 82 K/N 173 rs535026241 0.4189 None gnomAD-2.1.1 3.99E-06
2614 82 K/N 173 rs535026241 0.4189 None gnomAD-3.1.2 6.57E-06
2614 82 K/N 173 rs535026241 0.4189 None 1000 genomes 1.99681E-04
2614 82 K/N 173 rs535026241 0.4189 None gnomAD-4.0.0 6.56478E-06
2616 84 T/A 175 None 0.5344 None gnomAD-4.0.0 1.59109E-06
2616 84 T/I 175 None 0.5344 None gnomAD-4.0.0 1.59113E-06
2616 84 T/P 175 None 0.5344 None gnomAD-4.0.0 1.59109E-06