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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27369 1 R/K 1 rs774715672 0.5620 None gnomAD-2.1.1 1.61E-05
27369 1 R/K 1 rs774715672 0.5620 None gnomAD-3.1.2 1.31E-05
27369 1 R/K 1 rs774715672 0.5620 None gnomAD-4.0.0 9.29575E-06
27370 2 P/L 2 rs1396821599 0.1095 None gnomAD-2.1.1 4.02E-06
27370 2 P/L 2 rs1396821599 0.1095 None gnomAD-4.0.0 1.59134E-06
27370 2 P/T 2 None 0.1095 None gnomAD-4.0.0 4.10533E-06
27371 3 G/E 3 rs766785319 0.2134 None gnomAD-2.1.1 8.05E-06
27371 3 G/E 3 rs766785319 0.2134 None gnomAD-3.1.2 2.63E-05
27371 3 G/E 3 rs766785319 0.2134 None gnomAD-4.0.0 1.11554E-05
27371 3 G/R 3 rs1019913774 0.2134 None gnomAD-3.1.2 6.57E-06
27371 3 G/R 3 rs1019913774 0.2134 None gnomAD-4.0.0 6.57419E-06
27372 4 P/R 4 None 0.3644 None gnomAD-4.0.0 1.59134E-06
27372 4 P/S 4 rs1287205407 0.3644 None gnomAD-2.1.1 4.02E-06
27372 4 P/T 4 rs1287205407 0.3644 None gnomAD-2.1.1 4.02E-06
27372 4 P/T 4 rs1287205407 0.3644 None gnomAD-4.0.0 1.59136E-06
27375 7 G/E 7 rs776304593 0.4999 None gnomAD-2.1.1 1.21E-05
27375 7 G/E 7 rs776304593 0.4999 None gnomAD-4.0.0 3.42117E-06
27375 7 G/R 7 rs557567114 0.4999 None gnomAD-2.1.1 5.23E-05
27375 7 G/R 7 rs557567114 0.4999 None 1000 genomes None
27375 7 G/R 7 rs557567114 0.4999 None gnomAD-4.0.0 6.84231E-07
27376 8 P/T 8 rs1704684984 0.7554 None gnomAD-3.1.2 6.57E-06
27376 8 P/T 8 rs1704684984 0.7554 None gnomAD-4.0.0 2.47897E-06
27377 9 L/P 9 None 0.1325 None gnomAD-4.0.0 1.36847E-06
27378 10 K/T 11 rs886055240 0.6810 None gnomAD-2.1.1 8.05E-06
27378 10 K/T 11 rs886055240 0.6810 None gnomAD-3.1.2 6.58E-06
27378 10 K/T 11 rs886055240 0.6810 None gnomAD-4.0.0 4.33821E-06
27379 11 V/L 12 None 0.2635 None gnomAD-4.0.0 1.20032E-06
27383 15 T/A 16 rs768253514 0.1810 None gnomAD-2.1.1 4.03E-06
27383 15 T/A 16 rs768253514 0.1810 None gnomAD-4.0.0 6.84242E-07
27383 15 T/I 16 rs746519411 0.1810 None gnomAD-2.1.1 1.21E-05
27383 15 T/I 16 rs746519411 0.1810 None gnomAD-4.0.0 5.47393E-06
27384 16 A/E 17 rs775005409 0.1264 None gnomAD-2.1.1 4.03E-06
27384 16 A/E 17 rs775005409 0.1264 None gnomAD-4.0.0 2.05274E-06
27384 16 A/V 17 rs775005409 0.1264 None gnomAD-2.1.1 2.5E-05
27384 16 A/V 17 rs775005409 0.1264 None gnomAD-3.1.2 1.97E-05
27384 16 A/V 17 rs775005409 0.1264 None gnomAD-4.0.0 1.48747E-05
27385 17 E/G 18 rs745887048 0.6659 None gnomAD-2.1.1 7.15E-06
27385 17 E/G 18 rs745887048 0.6659 None gnomAD-3.1.2 1.31E-05
27385 17 E/G 18 rs745887048 0.6659 None gnomAD-4.0.0 3.84369E-06
27385 17 E/K 18 None 0.6659 None gnomAD-4.0.0 1.59143E-06
27387 19 C/Y 20 rs1704671662 0.0757 None gnomAD-4.0.0 1.20032E-06
27390 22 A/T 23 rs1249245369 0.2306 None gnomAD-2.1.1 4.03E-06
27390 22 A/T 23 rs1249245369 0.2306 None gnomAD-4.0.0 1.36848E-06
27391 23 W/R 24 rs778983249 0.1184 None gnomAD-2.1.1 4.03E-06
27391 23 W/R 24 rs778983249 0.1184 None gnomAD-4.0.0 4.78965E-06
27392 24 N/I 25 None 0.5084 None gnomAD-4.0.0 1.5914E-06
27392 24 N/K 25 rs1421975284 0.5084 None gnomAD-2.1.1 3.19E-05
27392 24 N/K 25 rs1421975284 0.5084 None gnomAD-3.1.2 6.58E-06
27392 24 N/K 25 rs1421975284 0.5084 None gnomAD-4.0.0 6.57505E-06
27393 25 P/A 26 None 0.4103 None gnomAD-4.0.0 1.20032E-06
27393 25 P/L 26 rs1267590455 0.4103 None gnomAD-2.1.1 4.03E-06
27393 25 P/L 26 rs1267590455 0.4103 None gnomAD-4.0.0 1.59142E-06
27394 26 P/S 27 None 0.1556 None gnomAD-4.0.0 3.18284E-06
27394 26 P/T 27 None 0.1556 None gnomAD-4.0.0 3.18284E-06
27395 27 L/V 28 rs1304635139 0.9286 None gnomAD-3.1.2 3.29E-05
27395 27 L/V 28 rs1304635139 0.9286 None gnomAD-4.0.0 6.09032E-06
27396 28 Q/E 29 rs371604558 0.8122 None gnomAD-2.1.1 2.82E-05
27396 28 Q/E 29 rs371604558 0.8122 None gnomAD-3.1.2 7.23E-05
27396 28 Q/E 29 rs371604558 0.8122 None gnomAD-4.0.0 2.1072E-05
27396 28 Q/L 29 rs367804525 0.8122 None gnomAD-2.1.1 2.82E-05
27396 28 Q/L 29 rs367804525 0.8122 None gnomAD-3.1.2 7.23E-05
27396 28 Q/L 29 rs367804525 0.8122 None gnomAD-4.0.0 2.10706E-05
27396 28 Q/R 29 rs367804525 0.8122 None gnomAD-2.1.1 4.02E-06
27396 28 Q/R 29 rs367804525 0.8122 None gnomAD-3.1.2 6.57E-06
27396 28 Q/R 29 rs367804525 0.8122 None gnomAD-4.0.0 1.23945E-06
27397 29 D/A 30 None 0.3065 None gnomAD-4.0.0 6.84238E-07
27397 29 D/V 30 rs1230727377 0.3065 None gnomAD-2.1.1 4.02E-06
27397 29 D/V 30 rs1230727377 0.3065 None gnomAD-4.0.0 1.36848E-06
27398 30 G/A 31 None 0.3026 None gnomAD-4.0.0 6.84239E-07
27398 30 G/D 31 rs1553574305 0.3026 None gnomAD-4.0.0 1.36848E-06
27398 30 G/S 31 None 0.3026 None gnomAD-4.0.0 1.20032E-06
27399 31 G/D 32 None 0.5857 None gnomAD-4.0.0 4.80129E-06
27399 31 G/S 32 None 0.5857 None gnomAD-4.0.0 3.18286E-06
27400 32 A/T 33 None 0.1725 None gnomAD-4.0.0 1.36848E-06
27401 33 N/D 34 rs1365991014 0.9804 None gnomAD-2.1.1 4.02E-06
27401 33 N/D 34 rs1365991014 0.9804 None gnomAD-4.0.0 3.18284E-06
27402 34 I/T 35 rs1440068759 0.2138 None gnomAD-2.1.1 8.05E-06
27402 34 I/T 35 rs1440068759 0.2138 None gnomAD-3.1.2 1.97E-05
27402 34 I/T 35 rs1440068759 0.2138 None gnomAD-4.0.0 1.15314E-05
27402 34 I/V 35 rs1321218622 0.2138 None gnomAD-2.1.1 4.02E-06
27405 37 Y/C 38 None 0.1027 None gnomAD-4.0.0 1.20032E-06
27405 37 Y/N 38 None 0.1027 None gnomAD-4.0.0 1.20032E-06
27407 39 I/T 40 rs376037252 0.0751 None gnomAD-2.1.1 5E-05
27407 39 I/T 40 rs376037252 0.0751 None gnomAD-3.1.2 5.92E-05
27407 39 I/T 40 rs376037252 0.0751 None 1000 genomes 1.99681E-04
27407 39 I/T 40 rs376037252 0.0751 None gnomAD-4.0.0 7.5603E-05
27407 39 I/V 40 rs752734736 0.0751 None gnomAD-4.0.0 1.59139E-06
27408 40 E/G 41 None 0.1313 None gnomAD-4.0.0 1.59138E-06
27409 41 K/E 42 None 0.1872 None gnomAD-4.0.0 2.40064E-06
27409 41 K/N 42 rs1372169120 0.1872 None gnomAD-2.1.1 4.02E-06
27409 41 K/N 42 rs1372169120 0.1872 None gnomAD-4.0.0 1.59139E-06
27410 42 R/K 43 None 0.2253 None gnomAD-4.0.0 3.60097E-06
27412 44 T/K 50 rs201489661 0.3527 None gnomAD-2.1.1 3.94239E-04
27412 44 T/K 50 rs201489661 0.3527 None gnomAD-3.1.2 1.90652E-04
27412 44 T/K 50 rs201489661 0.3527 None gnomAD-4.0.0 2.37958E-04
27412 44 T/R 50 rs201489661 0.3527 None gnomAD-2.1.1 4.02E-05
27412 44 T/R 50 rs201489661 0.3527 None gnomAD-3.1.2 3.29E-05
27412 44 T/R 50 rs201489661 0.3527 None gnomAD-4.0.0 1.61117E-05
27414 46 R/Q 60 rs763336230 0.4576 None gnomAD-2.1.1 4.64E-05
27414 46 R/Q 60 rs763336230 0.4576 None gnomAD-3.1.2 3.29E-05
27414 46 R/Q 60 rs763336230 0.4576 None gnomAD-4.0.0 2.54092E-05
27416 48 S/F 64 None 0.5059 None gnomAD-4.0.0 1.36846E-06
27417 49 W/C 65 None 0.2401 None gnomAD-4.0.0 1.5914E-06
27418 50 T/I 66 rs750733161 0.4743 None gnomAD-2.1.1 8.04E-06
27418 50 T/I 66 rs750733161 0.4743 None gnomAD-4.0.0 2.73694E-06
27418 50 T/S 66 None 0.4743 None gnomAD-4.0.0 3.60097E-06
27422 54 T/A 70 rs760304866 0.4557 None gnomAD-2.1.1 4.02E-06
27422 54 T/A 70 rs760304866 0.4557 None gnomAD-4.0.0 1.75048E-05
27423 55 E/D 75 rs775004192 0.7387 None gnomAD-2.1.1 2.5E-05
27423 55 E/D 75 rs775004192 0.7387 None gnomAD-3.1.2 6.57E-06
27423 55 E/K 75 rs1486346584 0.7387 None gnomAD-2.1.1 3.19E-05
27423 55 E/K 75 rs1486346584 0.7387 None gnomAD-3.1.2 1.31E-05
27423 55 E/K 75 rs1486346584 0.7387 None gnomAD-4.0.0 1.85915E-06
27424 56 V/I 77 rs771672985 0.1120 None gnomAD-2.1.1 4.02E-06
27424 56 V/I 77 rs771672985 0.1120 None gnomAD-3.1.2 6.57E-06
27424 56 V/I 77 rs771672985 0.1120 None gnomAD-4.0.0 2.02999E-06
27425 57 Q/R 83 rs1302788050 0.8314 None gnomAD-2.1.1 4.02E-06
27425 57 Q/R 83 rs1302788050 0.8314 None gnomAD-4.0.0 6.36547E-06
27426 58 A/D 88 rs774473418 0.3328 None gnomAD-2.1.1 4.02E-06
27426 58 A/G 88 None 0.3328 None gnomAD-3.1.2 6.57E-06
27426 58 A/G 88 None 0.3328 None gnomAD-4.0.0 6.57471E-06
27426 58 A/V 88 rs774473418 0.3328 None gnomAD-2.1.1 1.61E-05
27426 58 A/V 88 rs774473418 0.3328 None gnomAD-3.1.2 6.57E-06
27426 58 A/V 88 rs774473418 0.3328 None gnomAD-4.0.0 1.40937E-05
27428 60 N/K 90 rs749118760 0.5237 None gnomAD-2.1.1 4.02E-06
27428 60 N/K 90 rs749118760 0.5237 None gnomAD-4.0.0 2.0527E-06
27429 61 Y/H 91 rs1387188018 0.2710 None gnomAD-2.1.1 8.05E-06
27429 61 Y/H 91 rs1387188018 0.2710 None gnomAD-3.1.2 6.57E-06
27429 61 Y/H 91 rs1387188018 0.2710 None gnomAD-4.0.0 1.61129E-05
27430 62 K/N 92 None 0.3343 None gnomAD-4.0.0 1.59134E-06
27430 62 K/R 92 None 0.3343 None gnomAD-4.0.0 1.20032E-06
27432 64 T/N 94 None 0.4117 None gnomAD-4.0.0 1.59136E-06
27434 66 L/F 97 rs777655678 0.0966 None gnomAD-2.1.1 3.19E-05
27434 66 L/F 97 rs777655678 0.0966 None gnomAD-3.1.2 6.57E-06
27434 66 L/F 97 rs777655678 0.0966 None gnomAD-4.0.0 6.817E-06
27434 66 L/V 97 rs777655678 0.0966 None gnomAD-2.1.1 4.02E-06
27434 66 L/V 97 rs777655678 0.0966 None gnomAD-4.0.0 6.84228E-07
27435 67 L/I 98 rs1060500432 0.6026 None gnomAD-4.0.0 1.20032E-06
27436 68 P/S 99 None 0.5078 None gnomAD-4.0.0 3.18268E-06
27437 69 G/S 100 rs1431238411 0.3853 None gnomAD-2.1.1 4.02E-06
27437 69 G/S 100 rs1431238411 0.3853 None gnomAD-4.0.0 1.59136E-06
27438 70 N/D 102 rs2154161681 0.3065 None gnomAD-4.0.0 1.59138E-06
27439 71 E/K 103 rs748460030 0.2717 None gnomAD-2.1.1 7.15E-06
27439 71 E/K 103 rs748460030 0.2717 None gnomAD-3.1.2 1.97E-05
27439 71 E/K 103 rs748460030 0.2717 None gnomAD-4.0.0 3.0987E-06
27440 72 Y/C 104 rs781246930 0.0870 None gnomAD-2.1.1 4.02E-06
27440 72 Y/C 104 rs781246930 0.0870 None gnomAD-4.0.0 1.59137E-06
27442 74 F/I 106 None 0.1184 None gnomAD-4.0.0 1.20032E-06
27443 75 R/C 107 rs755125180 0.1303 None gnomAD-2.1.1 4.03E-06
27443 75 R/C 107 rs755125180 0.1303 None gnomAD-3.1.2 6.58E-06
27443 75 R/C 107 rs755125180 0.1303 None gnomAD-4.0.0 6.81732E-06
27443 75 R/H 107 rs551496477 0.1303 None gnomAD-2.1.1 4.03E-06
27443 75 R/H 107 rs551496477 0.1303 None gnomAD-3.1.2 1.32E-05
27443 75 R/H 107 rs551496477 0.1303 None gnomAD-4.0.0 1.92125E-05
27443 75 R/L 107 rs551496477 0.1303 None gnomAD-2.1.1 1.61E-05
27443 75 R/L 107 rs551496477 0.1303 None gnomAD-3.1.2 6.58E-06
27443 75 R/L 107 rs551496477 0.1303 None 1000 genomes 1.99681E-04
27443 75 R/L 107 rs551496477 0.1303 None gnomAD-4.0.0 4.9577E-06
27444 76 V/A 108 None 0.0783 None gnomAD-4.0.0 1.59134E-06
27445 77 M/T 109 None 0.0976 None gnomAD-4.0.0 2.40064E-06
27446 78 A/T 110 rs1200170296 0.0856 None gnomAD-2.1.1 4.03E-06
27446 78 A/T 110 rs1200170296 0.0856 None gnomAD-3.1.2 6.58E-06
27446 78 A/T 110 rs1200170296 0.0856 None gnomAD-4.0.0 3.844E-06
27446 78 A/V 110 rs780558473 0.0856 None gnomAD-2.1.1 8.05E-06
27446 78 A/V 110 rs780558473 0.0856 None gnomAD-4.0.0 6.15804E-06
27447 79 V/M 111 rs758840788 0.1044 None gnomAD-2.1.1 8.05E-06
27447 79 V/M 111 rs758840788 0.1044 None gnomAD-4.0.0 4.77417E-06
27449 81 K/I 113 rs750788494 0.4638 None gnomAD-2.1.1 4.03E-06
27449 81 K/Q 113 rs925851202 0.4638 None gnomAD-3.1.2 6.57E-06
27449 81 K/Q 113 rs925851202 0.4638 None gnomAD-4.0.0 6.57488E-06
27451 83 G/R 115 rs528438328 0.2196 None gnomAD-2.1.1 4.03E-06
27451 83 G/R 115 rs528438328 0.2196 None gnomAD-3.1.2 6.58E-06
27451 83 G/R 115 rs528438328 0.2196 None 1000 genomes 1.99681E-04
27451 83 G/R 115 rs528438328 0.2196 None gnomAD-4.0.0 6.56996E-06
27453 85 G/E 118 rs1036707578 0.1247 None gnomAD-2.1.1 4.03E-06
27453 85 G/E 118 rs1036707578 0.1247 None gnomAD-4.0.0 1.59139E-06
27454 86 E/K 119 rs1704595513 0.5379 None gnomAD-4.0.0 1.59137E-06
27455 87 P/T 120 None 0.3261 None gnomAD-4.0.0 1.59138E-06
27456 88 L/F 121 rs1233877374 0.1297 None gnomAD-4.0.0 1.36846E-06
27456 88 L/M 121 None 0.1297 None gnomAD-4.0.0 1.36846E-06
27457 89 E/D 122 None 0.3324 None gnomAD-4.0.0 1.36846E-06
27458 90 S/F 123 rs1335006996 0.1840 None gnomAD-2.1.1 4.02E-06
27458 90 S/F 123 rs1335006996 0.1840 None gnomAD-4.0.0 1.20032E-06
27460 92 P/S 126 rs1043329468 0.5589 None gnomAD-3.1.2 6.58E-06
27460 92 P/S 126 rs1043329468 0.5589 None gnomAD-4.0.0 3.09872E-06
27460 92 P/T 126 rs1043329468 0.5589 None gnomAD-3.1.2 6.58E-06
27460 92 P/T 126 rs1043329468 0.5589 None gnomAD-4.0.0 1.23949E-06
27461 93 V/D 127 None 0.2482 None gnomAD-4.0.0 1.20032E-06
27461 93 V/I 127 None 0.2482 None gnomAD-4.0.0 1.20032E-06
27462 94 T/K 129 None 0.3655 None gnomAD-2.1.1 5.59899E-03
27462 94 T/K 129 None 0.3655 None gnomAD-3.1.2 1.48864E-02
27462 94 T/K 129 None 0.3655 None 1000 genomes 1.55751E-02
27462 94 T/K 129 None 0.3655 None gnomAD-4.0.0 3.24422E-03
27462 94 T/M 129 rs55933739 0.3655 None gnomAD-2.1.1 6.07E-05
27462 94 T/M 129 rs55933739 0.3655 None gnomAD-3.1.2 7.24E-05
27462 94 T/M 129 rs55933739 0.3655 None gnomAD-4.0.0 8.86194E-05
27462 94 T/R 129 rs55933739 0.3655 None gnomAD-2.1.1 4.02E-06
27463 95 A/D 130 None 0.0664 None gnomAD-4.0.0 1.59137E-06
27463 95 A/P 130 rs1350757570 0.0664 None gnomAD-2.1.1 4.02E-06
27463 95 A/P 130 rs1350757570 0.0664 None gnomAD-4.0.0 1.59136E-06
27464 96 C/R 131 rs1704578437 0.2772 None gnomAD-3.1.2 6.57E-06
27464 96 C/R 131 rs1704578437 0.2772 None gnomAD-4.0.0 6.57497E-06
27465 97 N/H 132 None 0.6527 None gnomAD-4.0.0 1.20032E-06