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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28550 1 V/D 1 rs727505194 0.5328 None gnomAD-2.1.1 1.21E-05
28550 1 V/D 1 rs727505194 0.5328 None gnomAD-3.1.2 1.32E-05
28550 1 V/D 1 rs727505194 0.5328 None gnomAD-4.0.0 4.95944E-06
28551 2 P/R 2 None 0.1274 None gnomAD-4.0.0 1.59255E-06
28551 2 P/T 2 rs142478636 0.1274 None gnomAD-2.1.1 1.97059E-04
28551 2 P/T 2 rs142478636 0.1274 None gnomAD-3.1.2 1.51298E-04
28551 2 P/T 2 rs142478636 0.1274 None 1000 genomes 7.98722E-04
28551 2 P/T 2 rs142478636 0.1274 None gnomAD-4.0.0 1.8163E-04
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-2.1.1 4.04E-06
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-3.1.2 6.57E-06
28552 3 S/G 3 rs1404561736 0.2161 None gnomAD-4.0.0 1.85963E-06
28553 4 P/L 4 rs1303551225 0.2913 None gnomAD-3.1.2 1.32E-05
28553 4 P/L 4 rs1303551225 0.2913 None gnomAD-4.0.0 5.12755E-06
28554 5 P/S 5 None 0.1247 None gnomAD-4.0.0 1.36878E-06
28555 6 T/A 6 None 0.4417 None gnomAD-4.0.0 1.59219E-06
28555 6 T/K 6 None 0.4417 None gnomAD-4.0.0 6.8437E-07
28555 6 T/M 6 rs778254289 0.4417 None gnomAD-2.1.1 2.02E-05
28555 6 T/M 6 rs778254289 0.4417 None gnomAD-4.0.0 9.58118E-06
28558 9 E/A 11 None 0.5132 None gnomAD-4.0.0 1.59197E-06
28559 10 I/V 12 rs1156788911 0.2261 None gnomAD-2.1.1 4.03E-06
28559 10 I/V 12 rs1156788911 0.2261 None gnomAD-4.0.0 1.59185E-06
28560 11 T/A 13 rs748636733 0.5250 None gnomAD-2.1.1 4.03E-06
28560 11 T/A 13 rs748636733 0.5250 None gnomAD-4.0.0 1.59183E-06
28560 11 T/S 13 rs1703208399 0.5250 None gnomAD-4.0.0 1.59182E-06
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-2.1.1 4.29E-05
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-3.1.2 3.95E-05
28561 12 S/C 14 rs781472455 0.4384 None gnomAD-4.0.0 5.51093E-05
28561 12 S/P 14 rs1703206822 0.4384 None gnomAD-3.1.2 6.57E-06
28561 12 S/P 14 rs1703206822 0.4384 None gnomAD-4.0.0 6.57462E-06
28562 13 V/M 15 None 0.3507 None gnomAD-4.0.0 1.59183E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-2.1.1 8.06E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-3.1.2 6.58E-06
28563 14 T/N 16 rs1186514108 0.2917 None gnomAD-4.0.0 3.84537E-06
28564 15 K/E 17 rs755352127 0.3056 None gnomAD-2.1.1 4.03E-05
28564 15 K/E 17 rs755352127 0.3056 None gnomAD-4.0.0 1.91007E-05
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-2.1.1 5.86678E-04
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-3.1.2 1.6957E-03
28564 15 K/I 17 rs199859344 0.3056 None 1000 genomes 2.59585E-03
28564 15 K/I 17 rs199859344 0.3056 None gnomAD-4.0.0 3.31552E-04
28565 16 E/Q 18 rs1703203626 0.5866 None gnomAD-4.0.0 1.59174E-06
28566 17 S/C 19 None 0.1488 None gnomAD-4.0.0 6.84278E-07
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-2.1.1 7.15E-06
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-3.1.2 6.58E-06
28566 17 S/F 19 rs267599031 0.1488 None gnomAD-4.0.0 1.17761E-05
28567 18 M/K 20 None 0.0767 None gnomAD-4.0.0 6.84268E-07
28567 18 M/T 20 None 0.0767 None gnomAD-4.0.0 1.36854E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-2.1.1 8.06E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-3.1.2 6.58E-06
28568 19 T/I 21 rs756726107 0.1850 None gnomAD-4.0.0 3.09894E-06
28570 21 C/R 23 rs753342822 0.1713 None gnomAD-2.1.1 4.03E-06
28570 21 C/R 23 rs753342822 0.1713 None gnomAD-4.0.0 1.36853E-06
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-2.1.1 3.19E-05
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-3.1.2 6.57E-06
28570 21 C/Y 23 rs1038148800 0.1713 None gnomAD-4.0.0 1.8593E-06
28571 22 W/R 24 None 0.1172 None gnomAD-4.0.0 3.60097E-06
28571 22 W/S 24 None 0.1172 None gnomAD-4.0.0 6.84259E-07
28573 24 R/K 26 None 0.5986 None gnomAD-4.0.0 1.59155E-06
28574 25 P/S 27 None 0.1792 None gnomAD-4.0.0 2.40064E-06
28575 26 E/D 28 rs752650483 1.0261 None gnomAD-2.1.1 7.15E-06
28575 26 E/D 28 rs752650483 1.0261 None gnomAD-4.0.0 1.59153E-06
28575 26 E/G 28 rs1703193280 1.0261 None gnomAD-3.1.2 6.57E-06
28575 26 E/G 28 rs1703193280 1.0261 None gnomAD-4.0.0 6.57376E-06
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-2.1.1 3.93E-05
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-3.1.2 3.94E-05
28575 26 E/K 28 rs760762822 1.0261 None gnomAD-4.0.0 5.70177E-05
28576 27 S/R 29 rs1313703882 0.4700 None gnomAD-4.0.0 1.20032E-06
28577 28 D/E 30 None 0.4081 None gnomAD-4.0.0 1.36851E-06
28577 28 D/N 30 None 0.4081 None gnomAD-4.0.0 1.5915E-06
28578 29 G/R 31 rs1381804106 0.3861 None gnomAD-2.1.1 4.03E-06
28578 29 G/R 31 rs1381804106 0.3861 None gnomAD-4.0.0 1.59148E-06
28579 30 G/A 32 rs767264941 0.7083 None gnomAD-2.1.1 4.03E-06
28579 30 G/A 32 rs767264941 0.7083 None gnomAD-4.0.0 1.59149E-06
28579 30 G/C 32 None 0.7083 None gnomAD-4.0.0 3.60097E-06
28580 31 S/G 33 rs759326015 0.2940 None gnomAD-2.1.1 4.03E-06
28580 31 S/G 33 rs759326015 0.2940 None gnomAD-4.0.0 3.18298E-06
28581 32 E/Q 34 None 0.8596 None gnomAD-4.0.0 1.59146E-06
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-2.1.1 3.57E-05
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-3.1.2 1.24961E-04
28582 33 I/K 35 rs201688358 0.1836 None gnomAD-4.0.0 1.85931E-05
28582 33 I/T 35 None 0.1836 None gnomAD-4.0.0 6.84252E-07
28583 34 S/C 36 None 0.2490 None gnomAD-4.0.0 6.84253E-07
28583 34 S/F 36 rs1553562507 0.2490 None gnomAD-4.0.0 1.36851E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-2.1.1 8.05E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-3.1.2 6.58E-06
28583 34 S/P 36 rs763032657 0.2490 None gnomAD-4.0.0 6.81736E-06
28584 35 G/E 37 None 0.0829 None gnomAD-2.1.1 4.03E-06
28584 35 G/E 37 None 0.0829 None gnomAD-4.0.0 2.05276E-06
28584 35 G/V 37 rs992420765 0.0829 None gnomAD-4.0.0 6.84255E-07
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-2.1.1 4.03E-06
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-3.1.2 6.57E-06
28586 37 I/K 39 rs773336002 0.1304 None gnomAD-4.0.0 3.04486E-06
28586 37 I/L 39 None 0.1304 None gnomAD-4.0.0 3.42126E-06
28586 37 I/V 39 rs1187128207 0.1304 None gnomAD-3.1.2 6.57E-06
28586 37 I/V 39 rs1187128207 0.1304 None gnomAD-4.0.0 2.47889E-06
28589 40 R/K 42 rs769856738 0.1836 None gnomAD-2.1.1 4.03E-06
28589 40 R/K 42 rs769856738 0.1836 None gnomAD-4.0.0 3.18304E-06
28590 41 R/L 43 None 0.2360 None gnomAD-4.0.0 2.05277E-06
28590 41 R/P 43 rs375667028 0.2360 None gnomAD-2.1.1 4.03E-06
28590 41 R/P 43 rs375667028 0.2360 None gnomAD-4.0.0 6.84258E-07
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-2.1.1 1.25107E-04
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-3.1.2 1.1834E-04
28590 41 R/Q 43 rs375667028 0.2360 None gnomAD-4.0.0 9.04842E-05
28591 42 E/K 44 None 0.2587 None gnomAD-4.0.0 2.737E-06
28591 42 E/Q 44 rs556819067 0.2587 None gnomAD-4.0.0 6.84251E-07
28592 43 K/R 50 None 0.4546 None gnomAD-4.0.0 4.77445E-06
28594 45 S/T 60 rs1703174198 0.2472 None gnomAD-4.0.0 1.59153E-06
28596 47 R/K 64 None 0.7650 None gnomAD-4.0.0 1.20032E-06
28597 48 W/R 65 rs1575611720 0.2150 None gnomAD-4.0.0 3.18287E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-2.1.1 7.14E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-3.1.2 6.58E-06
28599 50 R/C 67 rs755081931 0.3584 None gnomAD-4.0.0 8.67683E-06
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-2.1.1 1.79E-05
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-3.1.2 1.97E-05
28599 50 R/H 67 rs558543425 0.3584 None 1000 genomes 1.99681E-04
28599 50 R/H 67 rs558543425 0.3584 None gnomAD-4.0.0 1.98299E-05
28599 50 R/P 67 rs558543425 0.3584 None gnomAD-2.1.1 4.02E-06
28599 50 R/P 67 rs558543425 0.3584 None gnomAD-4.0.0 2.05268E-06
28599 50 R/S 67 rs755081931 0.3584 None gnomAD-2.1.1 4.02E-06
28599 50 R/S 67 rs755081931 0.3584 None gnomAD-4.0.0 4.78968E-06
28600 51 V/A 68 None 0.2689 None gnomAD-4.0.0 1.20032E-06
28603 54 K/I 72 None 0.8994 None gnomAD-4.0.0 1.59124E-06
28603 54 K/N 72 rs778444893 0.8994 None gnomAD-4.0.0 6.84212E-07
28604 55 P/T 75 rs1208500218 0.3411 None gnomAD-2.1.1 4.02E-06
28604 55 P/T 75 rs1208500218 0.3411 None gnomAD-4.0.0 1.3684E-06
28605 56 V/L 77 None 0.1945 None gnomAD-4.0.0 1.20032E-06
28606 57 Y/C 83 rs748945937 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/F 83 rs748945937 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/F 83 rs748945937 0.6250 None gnomAD-4.0.0 3.1826E-06
28606 57 Y/H 83 rs757029350 0.6250 None gnomAD-2.1.1 4.02E-06
28606 57 Y/H 83 rs757029350 0.6250 None gnomAD-4.0.0 6.36507E-06
28607 58 D/E 88 None 0.7764 None gnomAD-4.0.0 1.5913E-06
28607 58 D/H 88 rs879085011 0.7764 None gnomAD-3.1.2 6.57E-06
28607 58 D/H 88 rs879085011 0.7764 None gnomAD-4.0.0 6.57333E-06
28609 60 R/G 90 None 0.5478 None gnomAD-4.0.0 1.59128E-06
28609 60 R/K 90 None 0.5478 None gnomAD-4.0.0 6.84214E-07
28609 60 R/T 90 rs755662471 0.5478 None gnomAD-2.1.1 4.02E-06
28609 60 R/T 90 rs755662471 0.5478 None gnomAD-4.0.0 6.84214E-07
28613 64 T/A 94 rs1341127613 0.5344 None gnomAD-2.1.1 4.02E-06
28613 64 T/A 94 rs1341127613 0.5344 None gnomAD-4.0.0 3.42098E-06
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-2.1.1 3.57E-05
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-3.1.2 3.95E-05
28613 64 T/I 94 rs368615862 0.5344 None gnomAD-4.0.0 5.89333E-05
28613 64 T/S 94 rs1341127613 0.5344 None gnomAD-2.1.1 4.02E-06
28613 64 T/S 94 rs1341127613 0.5344 None gnomAD-4.0.0 1.36839E-06
28615 66 L/F 97 rs978201175 0.1139 None gnomAD-4.0.0 2.7368E-06
28616 67 R/L 98 rs373942982 0.5814 None gnomAD-3.1.2 6.57E-06
28616 67 R/L 98 rs373942982 0.5814 None gnomAD-4.0.0 6.57454E-06
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-2.1.1 2.14E-05
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-3.1.2 3.29E-05
28616 67 R/Q 98 rs373942982 0.5814 None gnomAD-4.0.0 2.23096E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-2.1.1 2.14E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-3.1.2 3.95E-05
28616 67 R/W 98 rs754025981 0.5814 None gnomAD-4.0.0 3.53241E-05
28619 70 C/S 102 rs74853087 0.1602 None gnomAD-4.0.0 2.40065E-06
28619 70 C/Y 102 None 0.1602 None gnomAD-4.0.0 3.60097E-06
28620 71 E/Q 103 None 0.2878 None gnomAD-4.0.0 1.59123E-06
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-2.1.1 1.21E-05
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-3.1.2 6.57E-06
28621 72 Y/H 104 rs751308383 0.1025 None gnomAD-4.0.0 1.36331E-05
28623 74 Y/C 106 None 0.1019 None gnomAD-4.0.0 1.20032E-06
28624 75 R/C 107 rs398124458 0.1354 None gnomAD-2.1.1 8.04E-06
28624 75 R/C 107 rs398124458 0.1354 None gnomAD-4.0.0 4.10519E-06
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-2.1.1 1.14181E-04
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-3.1.2 2.63E-05
28624 75 R/H 107 rs538641703 0.1354 None 1000 genomes 1.99681E-04
28624 75 R/H 107 rs538641703 0.1354 None gnomAD-4.0.0 7.37399E-05
28625 76 V/I 108 None 0.0705 None gnomAD-4.0.0 1.20033E-06
28626 77 Y/F 109 None 0.1504 None gnomAD-4.0.0 1.20032E-06
28626 77 Y/H 109 rs1477861188 0.1504 None gnomAD-2.1.1 4.02E-06
28626 77 Y/H 109 rs1477861188 0.1504 None gnomAD-4.0.0 1.59119E-06
28632 83 G/A 115 rs794729517 0.2002 None gnomAD-2.1.1 4.02E-06
28632 83 G/A 115 rs794729517 0.2002 None gnomAD-3.1.2 6.58E-06
28632 83 G/A 115 rs794729517 0.2002 None gnomAD-4.0.0 6.57549E-06
28633 84 L/R 117 None 0.4030 None gnomAD-4.0.0 2.40064E-06
28635 86 L/I 119 rs2154158514 0.8480 None gnomAD-3.1.2 6.57E-06
28635 86 L/I 119 rs2154158514 0.8480 None gnomAD-4.0.0 6.56823E-06
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-2.1.1 7.14E-06
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-3.1.2 1.31E-05
28636 87 P/R 120 rs879238812 0.2660 None gnomAD-4.0.0 3.8435E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-2.1.1 4.02E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-3.1.2 6.6E-06
28639 90 T/A 123 rs1198379778 0.4691 None gnomAD-4.0.0 3.09977E-06
28639 90 T/N 123 rs1316337733 0.4691 None gnomAD-2.1.1 4.02E-06
28639 90 T/N 123 rs1316337733 0.4691 None gnomAD-4.0.0 1.5912E-06
28639 90 T/P 123 None 0.4691 None gnomAD-4.0.0 6.84204E-07
28640 91 S/C 124 rs952971526 0.1782 None gnomAD-3.1.2 6.57E-06
28640 91 S/C 124 rs952971526 0.1782 None gnomAD-4.0.0 4.05999E-06
28640 91 S/P 124 rs1703134059 0.1782 None gnomAD-3.1.2 6.57E-06
28640 91 S/P 124 rs1703134059 0.1782 None gnomAD-4.0.0 2.03003E-06
28641 92 P/R 125 None 0.6884 None gnomAD-4.0.0 1.59126E-06
28642 93 L/F 126 None 0.3694 None gnomAD-4.0.0 6.842E-07
28642 93 L/S 126 None 0.3694 None gnomAD-4.0.0 1.20032E-06
28644 95 R/G 129 None 0.4805 None gnomAD-4.0.0 9.60257E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-2.1.1 4.02E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-3.1.2 6.58E-06
28644 95 R/S 129 rs1322931412 0.4805 None gnomAD-4.0.0 6.40669E-06
28645 96 A/E 130 None 0.0667 None gnomAD-4.0.0 6.84201E-07
28645 96 A/T 130 rs879226652 0.0667 None gnomAD-2.1.1 8.04E-06
28645 96 A/T 130 rs879226652 0.0667 None gnomAD-4.0.0 3.18249E-06
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-2.1.1 1.07E-05
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-3.1.2 1.97E-05
28645 96 A/V 130 rs375603504 0.0667 None gnomAD-4.0.0 9.91526E-06
28647 98 D/N 132 rs1378020700 0.5690 None gnomAD-3.1.2 6.57E-06
28647 98 D/N 132 rs1378020700 0.5690 None gnomAD-4.0.0 7.105E-06