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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20371 1 P/T 1 rs1227565945 0.5386 None gnomAD-2.1.1 4.03E-06
20371 1 P/T 1 rs1227565945 0.5386 None gnomAD-4.0.0 1.59326E-06
20373 3 G/R 3 None 0.2438 None gnomAD-4.0.0 1.36919E-06
20374 4 P/L 4 rs372969669 0.2953 None gnomAD-2.1.1 7.16E-06
20374 4 P/L 4 rs372969669 0.2953 None gnomAD-3.1.2 1.32E-05
20374 4 P/L 4 rs372969669 0.2953 None gnomAD-4.0.0 1.31551E-05
20374 4 P/S 4 rs1353471700 0.2953 None gnomAD-2.1.1 3.19E-05
20374 4 P/S 4 rs1353471700 0.2953 None gnomAD-3.1.2 6.58E-06
20374 4 P/S 4 rs1353471700 0.2953 None gnomAD-4.0.0 2.56508E-06
20375 5 P/A 5 rs1576090518 0.0985 None gnomAD-4.0.0 4.78043E-06
20375 5 P/L 5 None 0.0985 None gnomAD-4.0.0 2.40064E-06
20376 6 I/T 6 rs1366424798 0.2326 None gnomAD-2.1.1 4.04E-06
20376 6 I/T 6 rs1366424798 0.2326 None gnomAD-4.0.0 7.96813E-06
20376 6 I/V 6 None 0.2326 None gnomAD-4.0.0 1.5936E-06
20378 8 P/H 9 None 0.1878 None gnomAD-4.0.0 1.20032E-06
20378 8 P/R 9 rs1228302698 0.1878 None gnomAD-2.1.1 3.19E-05
20378 8 P/R 9 rs1228302698 0.1878 None gnomAD-3.1.2 6.58E-06
20378 8 P/R 9 rs1228302698 0.1878 None gnomAD-4.0.0 6.57765E-06
20379 9 K/E 11 rs775620011 0.5414 None gnomAD-2.1.1 4.04E-06
20379 9 K/E 11 rs775620011 0.5414 None gnomAD-4.0.0 1.59411E-06
20379 9 K/T 11 None 0.5414 None gnomAD-4.0.0 1.59412E-06
20380 10 L/M 12 rs201167216 0.2814 None gnomAD-2.1.1 3.58639E-04
20380 10 L/M 12 rs201167216 0.2814 None gnomAD-3.1.2 1.02618E-03
20380 10 L/M 12 rs201167216 0.2814 None 1000 genomes 1.79712E-03
20380 10 L/M 12 rs201167216 0.2814 None gnomAD-4.0.0 1.86032E-04
20382 12 D/E 14 None 0.5385 None gnomAD-4.0.0 1.5941E-06
20383 13 K/E 15 None 0.2154 None gnomAD-4.0.0 1.20032E-06
20383 13 K/N 15 rs727504968 0.2154 None gnomAD-2.1.1 8.09E-06
20383 13 K/N 15 rs727504968 0.2154 None gnomAD-3.1.2 6.58E-06
20383 13 K/N 15 rs727504968 0.2154 None gnomAD-4.0.0 3.10091E-06
20383 13 K/R 15 rs1168586982 0.2154 None gnomAD-2.1.1 8.09E-06
20383 13 K/R 15 rs1168586982 0.2154 None gnomAD-4.0.0 4.78205E-06
20384 14 S/C 16 rs778981748 0.1772 None gnomAD-2.1.1 4.04E-06
20384 14 S/C 16 rs778981748 0.1772 None gnomAD-4.0.0 1.36943E-06
20384 14 S/G 16 None 0.1772 None gnomAD-4.0.0 6.84714E-07
20384 14 S/N 16 rs771365105 0.1772 None gnomAD-2.1.1 4.05E-06
20384 14 S/N 16 rs771365105 0.1772 None gnomAD-3.1.2 6.58E-06
20384 14 S/N 16 rs771365105 0.1772 None gnomAD-4.0.0 2.56651E-06
20386 16 E/D 18 None 0.4561 None gnomAD-4.0.0 1.59402E-06
20388 18 A/G 20 rs397517648 0.0954 None gnomAD-2.1.1 4.05E-06
20388 18 A/G 20 rs397517648 0.0954 None gnomAD-3.1.2 6.58E-06
20388 18 A/G 20 rs397517648 0.0954 None gnomAD-4.0.0 2.4807E-06
20388 18 A/V 20 rs397517648 0.0954 None gnomAD-4.0.0 6.84725E-07
20389 19 D/H 21 rs1410268896 0.2135 None gnomAD-3.1.2 6.58E-06
20389 19 D/H 21 rs1410268896 0.2135 None gnomAD-4.0.0 6.57748E-06
20390 20 L/F 22 None 0.1063 None gnomAD-4.0.0 6.84727E-07
20391 21 V/E 23 None 0.2072 None gnomAD-4.0.0 1.59391E-06
20392 22 W/G 24 rs778062181 0.1145 None gnomAD-2.1.1 6.47E-05
20392 22 W/G 24 rs778062181 0.1145 None gnomAD-3.1.2 1.97E-05
20392 22 W/G 24 rs778062181 0.1145 None gnomAD-4.0.0 2.97671E-05
20394 24 K/E 26 rs1488885188 0.7094 None gnomAD-2.1.1 4.04E-06
20394 24 K/E 26 rs1488885188 0.7094 None gnomAD-4.0.0 2.0538E-06
20394 24 K/N 26 rs1251147363 0.7094 None gnomAD-2.1.1 7.17E-06
20394 24 K/N 26 rs1251147363 0.7094 None gnomAD-3.1.2 1.32E-05
20394 24 K/N 26 rs1251147363 0.7094 None gnomAD-4.0.0 6.201E-06
20396 26 L/P 28 None 1.0910 None gnomAD-4.0.0 2.73823E-06
20396 26 L/R 28 rs2049986459 1.0910 None gnomAD-4.0.0 1.36912E-06
20397 27 S/G 29 None 0.4760 None gnomAD-4.0.0 1.20032E-06
20398 28 D/G 30 rs756486468 0.3361 None gnomAD-2.1.1 4.04E-06
20398 28 D/H 30 None 0.3361 None gnomAD-4.0.0 1.59323E-06
20399 29 G/D 31 None 0.4099 None gnomAD-4.0.0 1.20032E-06
20399 29 G/S 31 None 0.4099 None gnomAD-4.0.0 1.59313E-06
20400 30 G/D 32 None 0.6429 None gnomAD-4.0.0 1.20032E-06
20401 31 S/G 33 rs751194131 0.2150 None gnomAD-2.1.1 1.21E-05
20401 31 S/G 33 rs751194131 0.2150 None gnomAD-4.0.0 3.42254E-06
20401 31 S/R 33 rs779637589 0.2150 None gnomAD-2.1.1 7.16E-06
20401 31 S/R 33 rs779637589 0.2150 None gnomAD-3.1.2 6.58E-06
20401 31 S/R 33 rs779637589 0.2150 None gnomAD-4.0.0 5.1303E-06
20402 32 P/H 34 None 0.6854 None gnomAD-4.0.0 1.20032E-06
20403 33 I/T 35 rs757910559 0.2219 None gnomAD-2.1.1 8.07E-06
20403 33 I/T 35 rs757910559 0.2219 None gnomAD-4.0.0 1.36898E-06
20403 33 I/V 35 None 0.2219 None gnomAD-4.0.0 1.59278E-06
20405 35 G/E 37 rs749894610 0.0980 None gnomAD-2.1.1 1.61E-05
20405 35 G/E 37 rs749894610 0.0980 None gnomAD-4.0.0 1.43348E-05
20407 37 V/A 39 rs761797946 0.1183 None gnomAD-2.1.1 4.03E-06
20407 37 V/A 39 rs761797946 0.1183 None gnomAD-3.1.2 6.58E-06
20407 37 V/A 39 rs761797946 0.1183 None gnomAD-4.0.0 3.09988E-06
20408 38 V/A 40 rs753847129 0.0890 None gnomAD-2.1.1 2.01E-05
20408 38 V/A 40 rs753847129 0.0890 None gnomAD-3.1.2 6.58E-06
20408 38 V/A 40 rs753847129 0.0890 None gnomAD-4.0.0 6.81955E-06
20408 38 V/G 40 None 0.0890 None gnomAD-4.0.0 6.8446E-07
20408 38 V/M 40 rs2049977435 0.0890 None gnomAD-3.1.2 6.58E-06
20408 38 V/M 40 rs2049977435 0.0890 None gnomAD-4.0.0 4.06048E-06
20409 39 E/K 41 rs2049975714 0.1298 None gnomAD-4.0.0 2.05339E-06
20410 40 C/Y 42 rs2049975151 0.1473 None gnomAD-4.0.0 1.36892E-06
20412 42 K/Q 44 rs1465889294 0.6275 None gnomAD-2.1.1 4.03E-06
20412 42 K/Q 44 rs1465889294 0.6275 None gnomAD-3.1.2 6.58E-06
20412 42 K/Q 44 rs1465889294 0.6275 None gnomAD-4.0.0 2.5642E-06
20413 43 P/S 50 rs1318733792 0.4121 None gnomAD-2.1.1 3.19E-05
20413 43 P/S 50 rs1318733792 0.4121 None gnomAD-3.1.2 6.58E-06
20413 43 P/S 50 rs1318733792 0.4121 None gnomAD-4.0.0 6.58111E-06
20414 44 G/V 54 None 0.7110 None gnomAD-4.0.0 1.36894E-06
20415 45 T/A 60 rs1376276368 0.3823 None gnomAD-2.1.1 4.03E-06
20415 45 T/I 60 rs760457056 0.3823 None gnomAD-2.1.1 1.21E-05
20415 45 T/I 60 rs760457056 0.3823 None gnomAD-3.1.2 6.58E-06
20415 45 T/I 60 rs760457056 0.3823 None gnomAD-4.0.0 1.05402E-05
20415 45 T/K 60 rs760457056 0.3823 None gnomAD-2.1.1 4.03E-06
20415 45 T/K 60 rs760457056 0.3823 None gnomAD-3.1.2 6.58E-06
20415 45 T/K 60 rs760457056 0.3823 None gnomAD-4.0.0 8.06016E-06
20417 47 Q/K 64 None 0.6887 None gnomAD-4.0.0 1.59263E-06
20418 48 W/L 65 None 0.2202 None gnomAD-4.0.0 6.84454E-07
20419 49 N/H 66 None 0.4540 None gnomAD-4.0.0 1.20032E-06
20419 49 N/K 66 None 0.4540 None gnomAD-4.0.0 1.20032E-06
20420 50 R/S 67 rs750271660 0.2514 None gnomAD-4.0.0 3.90161E-05
20421 51 I/T 68 None 0.2083 None gnomAD-4.0.0 1.59277E-06
20422 52 N/S 69 None 0.1299 None gnomAD-4.0.0 1.59283E-06
20425 55 E/D 74 rs1252644947 0.8983 None gnomAD-2.1.1 1.21E-05
20425 55 E/D 74 rs1252644947 0.8983 None gnomAD-4.0.0 6.37196E-06
20425 55 E/G 74 rs1471584816 0.8983 None gnomAD-2.1.1 4.03E-06
20425 55 E/G 74 rs1471584816 0.8983 None gnomAD-4.0.0 1.59294E-06
20426 56 L/F 75 rs377529060 0.3197 None gnomAD-2.1.1 8.59E-05
20426 56 L/F 75 rs377529060 0.3197 None gnomAD-3.1.2 3.95E-05
20426 56 L/F 75 rs377529060 0.3197 None 1000 genomes 1.99681E-04
20426 56 L/F 75 rs377529060 0.3197 None gnomAD-4.0.0 2.72788E-05
20426 56 L/H 75 None 0.3197 None gnomAD-4.0.0 1.59304E-06
20427 57 I/S 77 rs2049964140 0.0857 None gnomAD-4.0.0 4.10725E-06
20427 57 I/T 77 None 0.0857 None gnomAD-4.0.0 6.84541E-07
20428 58 R/K 83 rs1158402913 0.8935 None gnomAD-2.1.1 3.19E-05
20428 58 R/K 83 rs1158402913 0.8935 None gnomAD-3.1.2 6.58E-06
20428 58 R/K 83 rs1158402913 0.8935 None gnomAD-4.0.0 2.03012E-06
20430 60 C/G 89 None 0.1472 None gnomAD-4.0.0 6.84667E-07
20430 60 C/Y 89 rs527704660 0.1472 None gnomAD-2.1.1 7.54E-05
20430 60 C/Y 89 rs527704660 0.1472 None gnomAD-3.1.2 6.58E-05
20430 60 C/Y 89 rs527704660 0.1472 None 1000 genomes 1.99681E-04
20430 60 C/Y 89 rs527704660 0.1472 None gnomAD-4.0.0 5.33305E-05
20431 61 A/V 90 rs2049959864 0.2363 None gnomAD-4.0.0 1.59432E-06
20432 62 F/S 91 None 0.1895 None gnomAD-4.0.0 3.18971E-06
20432 62 F/V 91 rs1287181968 0.1895 None gnomAD-2.1.1 4.05E-06
20432 62 F/V 91 rs1287181968 0.1895 None gnomAD-4.0.0 1.59484E-06
20433 63 R/M 92 rs1475658626 0.5029 None gnomAD-3.1.2 6.58E-06
20433 63 R/M 92 rs1475658626 0.5029 None gnomAD-4.0.0 6.5767E-06
20435 65 P/S 94 None 0.5525 None gnomAD-4.0.0 1.5969E-06
20438 68 I/N 98 rs756962314 0.5969 None gnomAD-2.1.1 4.1E-06
20438 68 I/N 98 rs756962314 0.5969 None gnomAD-4.0.0 6.86211E-07
20438 68 I/T 98 rs756962314 0.5969 None gnomAD-2.1.1 2.05E-05
20438 68 I/T 98 rs756962314 0.5969 None gnomAD-4.0.0 8.92074E-06
20439 69 E/K 99 rs778185086 0.5314 None gnomAD-2.1.1 4.12E-06
20439 69 E/K 99 rs778185086 0.5314 None gnomAD-4.0.0 1.60469E-06
20440 70 G/E 100 rs770189012 0.4109 None gnomAD-2.1.1 4.38E-05
20440 70 G/E 100 rs770189012 0.4109 None gnomAD-3.1.2 6.58E-06
20440 70 G/E 100 rs770189012 0.4109 None gnomAD-4.0.0 3.48365E-05
20441 71 N/S 102 rs147580753 0.3383 None gnomAD-2.1.1 3.54981E-04
20441 71 N/S 102 rs147580753 0.3383 None gnomAD-3.1.2 1.08494E-03
20441 71 N/S 102 rs147580753 0.3383 None 1000 genomes 5.99042E-04
20441 71 N/S 102 rs147580753 0.3383 None gnomAD-4.0.0 1.94152E-04
20442 72 E/Q 103 rs751412533 0.4287 None gnomAD-3.1.2 6.58E-06
20442 72 E/Q 103 rs751412533 0.4287 None gnomAD-4.0.0 6.57082E-06
20443 73 Y/H 104 rs781630562 0.1235 None gnomAD-2.1.1 8.31E-06
20443 73 Y/H 104 rs781630562 0.1235 None gnomAD-3.1.2 1.32E-05
20443 73 Y/H 104 rs781630562 0.1235 None gnomAD-4.0.0 3.23907E-05
20443 73 Y/N 104 rs781630562 0.1235 None gnomAD-4.0.0 1.3761E-06
20444 74 R/S 105 rs758056865 0.5161 None gnomAD-2.1.1 4.19E-06
20446 76 R/C 107 rs1470445238 0.1341 None gnomAD-2.1.1 1.28E-05
20446 76 R/C 107 rs1470445238 0.1341 None gnomAD-3.1.2 6.58E-06
20446 76 R/C 107 rs1470445238 0.1341 None gnomAD-4.0.0 4.32067E-05
20446 76 R/H 107 rs368278158 0.1341 None gnomAD-2.1.1 4.91E-05
20446 76 R/H 107 rs368278158 0.1341 None gnomAD-3.1.2 8.55E-05
20446 76 R/H 107 rs368278158 0.1341 None gnomAD-4.0.0 3.32067E-05
20446 76 R/L 107 rs368278158 0.1341 None gnomAD-4.0.0 3.46259E-06
20446 76 R/S 107 rs1470445238 0.1341 None gnomAD-2.1.1 8.54E-06
20446 76 R/S 107 rs1470445238 0.1341 None gnomAD-4.0.0 3.46007E-06
20447 77 I/T 108 None 0.0720 None gnomAD-4.0.0 6.92752E-07
20449 79 A/P 110 None 0.0980 None gnomAD-4.0.0 1.64748E-06
20450 80 A/S 111 None 0.1179 None gnomAD-4.0.0 1.6623E-06
20452 82 I/N 113 rs375946418 0.6681 None gnomAD-2.1.1 8.89E-06
20452 82 I/N 113 rs375946418 0.6681 None gnomAD-3.1.2 6.58E-06
20452 82 I/N 113 rs375946418 0.6681 None gnomAD-4.0.0 1.00986E-05
20452 82 I/T 113 None 0.6681 None gnomAD-4.0.0 6.98158E-07
20452 82 I/V 113 None 0.6681 None gnomAD-4.0.0 1.20032E-06
20453 83 V/I 114 rs962106912 0.6715 None gnomAD-2.1.1 4.49E-06
20453 83 V/I 114 rs962106912 0.6715 None gnomAD-3.1.2 6.58E-06
20453 83 V/I 114 rs962106912 0.6715 None gnomAD-4.0.0 1.89636E-06
20454 84 G/E 115 rs1364454525 0.2351 None gnomAD-4.0.0 1.40006E-06
20454 84 G/R 115 None 0.2351 None gnomAD-4.0.0 1.20032E-06
20455 85 E/D 117 rs1347430347 0.4247 None gnomAD-2.1.1 3.19E-05
20455 85 E/D 117 rs1347430347 0.4247 None gnomAD-3.1.2 2.63E-05
20455 85 E/D 117 rs1347430347 0.4247 None gnomAD-4.0.0 2.63054E-05
20455 85 E/V 117 None 0.4247 None gnomAD-4.0.0 7.01211E-07
20456 86 G/S 118 rs756873840 0.1655 None gnomAD-2.1.1 1.83E-05
20456 86 G/S 118 rs756873840 0.1655 None gnomAD-3.1.2 6.58E-06
20456 86 G/S 118 rs756873840 0.1655 None gnomAD-4.0.0 2.15646E-05
20457 87 E/A 119 rs541930965 0.7235 None gnomAD-2.1.1 3.69E-05
20457 87 E/A 119 rs541930965 0.7235 None gnomAD-3.1.2 1.32E-05
20457 87 E/A 119 rs541930965 0.7235 None 1000 genomes 1.99681E-04
20457 87 E/A 119 rs541930965 0.7235 None gnomAD-4.0.0 1.3328E-05
20457 87 E/K 119 None 0.7235 None gnomAD-4.0.0 2.10783E-06
20460 90 E/Q 122 None 0.3596 None gnomAD-4.0.0 1.70076E-06
20462 92 A/T 124 rs1461584789 0.8584 None gnomAD-2.1.1 4.68E-06
20462 92 A/T 124 rs1461584789 0.8584 None gnomAD-4.0.0 6.81006E-06
20465 95 V/M 127 rs1358181606 0.1605 None gnomAD-3.1.2 2.63E-05
20465 95 V/M 127 rs1358181606 0.1605 None gnomAD-4.0.0 2.63071E-05
20466 96 I/S 129 None 0.4543 None gnomAD-4.0.0 7.04896E-06
20466 96 I/T 129 rs372745397 0.4543 None gnomAD-2.1.1 9.43E-06
20466 96 I/T 129 rs372745397 0.4543 None gnomAD-4.0.0 2.11469E-06
20469 99 D/N 132 rs752372724 0.5051 None gnomAD-2.1.1 4.71E-06
20469 99 D/N 132 rs752372724 0.5051 None gnomAD-4.0.0 1.70971E-06
20469 99 D/V 132 rs1244702659 0.5051 None gnomAD-2.1.1 3.19E-05
20469 99 D/V 132 rs1244702659 0.5051 None gnomAD-3.1.2 6.58E-06
20469 99 D/V 132 rs1244702659 0.5051 None gnomAD-4.0.0 6.57748E-06