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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22354 1 T/A 1 rs1159944072 0.2357 None gnomAD-2.1.1 4.06E-06
22354 1 T/A 1 rs1159944072 0.2357 None gnomAD-4.0.0 3.42532E-06
22354 1 T/I 1 None 0.2357 None gnomAD-4.0.0 1.20043E-06
22355 2 P/A 2 rs794729481 0.0930 None gnomAD-2.1.1 4.05E-06
22355 2 P/A 2 rs794729481 0.0930 None gnomAD-4.0.0 6.84929E-07
22355 2 P/S 2 rs794729481 0.0930 None gnomAD-2.1.1 2.43E-05
22355 2 P/S 2 rs794729481 0.0930 None gnomAD-3.1.2 1.32E-05
22355 2 P/S 2 rs794729481 0.0930 None gnomAD-4.0.0 7.44396E-06
22356 3 G/R 3 rs763997790 0.1554 None gnomAD-4.0.0 1.59442E-06
22357 4 P/S 4 rs1446351991 0.3546 None gnomAD-2.1.1 8.08E-06
22357 4 P/S 4 rs1446351991 0.3546 None gnomAD-4.0.0 7.53261E-06
22358 5 P/H 5 rs1256672495 0.1157 None gnomAD-2.1.1 4.04E-06
22358 5 P/H 5 rs1256672495 0.1157 None gnomAD-3.1.2 6.58E-06
22358 5 P/H 5 rs1256672495 0.1157 None gnomAD-4.0.0 4.96058E-06
22358 5 P/L 5 None 0.1157 None gnomAD-4.0.0 6.84636E-07
22359 6 V/I 6 rs2303838 0.2987 None gnomAD-2.1.1 2.40208E-01
22359 6 V/I 6 rs2303838 0.2987 None gnomAD-3.1.2 2.45014E-01
22359 6 V/I 6 rs2303838 0.2987 None 1000 genomes 3.51238E-01
22359 6 V/I 6 rs2303838 0.2987 None gnomAD-4.0.0 2.02234E-01
22360 7 N/H 7 None 0.5756 None gnomAD-4.0.0 1.20033E-06
22361 8 V/M 9 None 0.1717 None gnomAD-4.0.0 1.20033E-06
22363 10 V/I 12 rs1484693236 0.2756 None gnomAD-2.1.1 4.03E-06
22363 10 V/I 12 rs1484693236 0.2756 None gnomAD-4.0.0 1.59307E-06
22365 12 E/A 14 rs1449941116 0.5018 None gnomAD-2.1.1 3.19E-05
22367 14 S/P 16 rs72646873 0.1923 None gnomAD-2.1.1 1.70763E-03
22367 14 S/P 16 rs72646873 0.1923 None gnomAD-3.1.2 1.88022E-03
22367 14 S/P 16 rs72646873 0.1923 None 1000 genomes 1.19808E-03
22367 14 S/P 16 rs72646873 0.1923 None gnomAD-4.0.0 3.29725E-03
22368 15 K/E 17 rs879076636 0.2974 None gnomAD-3.1.2 6.58E-06
22368 15 K/E 17 rs879076636 0.2974 None gnomAD-4.0.0 1.23981E-06
22368 15 K/N 17 rs727503577 0.2974 None gnomAD-2.1.1 4.44E-05
22368 15 K/N 17 rs727503577 0.2974 None gnomAD-3.1.2 4.6E-05
22368 15 K/N 17 rs727503577 0.2974 None gnomAD-4.0.0 3.40964E-05
22368 15 K/Q 17 None 0.2974 None gnomAD-4.0.0 6.84488E-07
22369 16 D/N 18 None 0.4218 None gnomAD-4.0.0 2.40066E-06
22369 16 D/V 18 rs759265517 0.4218 None gnomAD-2.1.1 8.07E-06
22369 16 D/V 18 rs759265517 0.4218 None gnomAD-4.0.0 1.59272E-06
22371 18 A/V 20 rs2047373918 0.1141 None gnomAD-3.1.2 6.57E-06
22371 18 A/V 20 rs2047373918 0.1141 None gnomAD-4.0.0 6.57497E-06
22373 20 V/A 22 rs774568339 0.1061 None gnomAD-2.1.1 4.03E-06
22373 20 V/D 22 rs774568339 0.1061 None gnomAD-3.1.2 6.57E-06
22373 20 V/D 22 rs774568339 0.1061 None gnomAD-4.0.0 3.71943E-06
22375 22 W/R 24 None 0.1032 None gnomAD-4.0.0 6.84437E-07
22377 24 P/L 26 rs771093991 0.4621 None gnomAD-2.1.1 2.42E-05
22377 24 P/L 26 rs771093991 0.4621 None gnomAD-4.0.0 8.89758E-06
22379 26 I/T 28 None 1.0443 None gnomAD-4.0.0 4.79093E-06
22380 27 I/M 29 None 0.3783 None gnomAD-4.0.0 6.84406E-07
22380 27 I/N 29 rs773461641 0.3783 None gnomAD-2.1.1 4.03E-06
22380 27 I/N 29 rs773461641 0.3783 None gnomAD-4.0.0 1.36883E-06
22380 27 I/T 29 rs773461641 0.3783 None gnomAD-2.1.1 8.06E-06
22380 27 I/T 29 rs773461641 0.3783 None gnomAD-3.1.2 3.29E-05
22380 27 I/T 29 rs773461641 0.3783 None gnomAD-4.0.0 1.85964E-05
22381 28 D/H 30 None 0.3090 None gnomAD-4.0.0 3.60099E-06
22383 30 G/R 32 rs372388682 0.2279 None gnomAD-2.1.1 6.44E-05
22383 30 G/R 32 rs372388682 0.2279 None gnomAD-3.1.2 4.6E-05
22383 30 G/R 32 rs372388682 0.2279 None gnomAD-4.0.0 8.86468E-05
22384 31 S/N 33 rs1451120123 0.1163 None gnomAD-3.1.2 6.58E-06
22384 31 S/N 33 rs1451120123 0.1163 None gnomAD-4.0.0 3.8458E-06
22384 31 S/T 33 None 0.1163 None gnomAD-4.0.0 1.59233E-06
22385 32 P/S 34 rs781562260 0.6683 None gnomAD-2.1.1 4.03E-06
22385 32 P/S 34 rs781562260 0.6683 None gnomAD-3.1.2 1.32E-05
22385 32 P/S 34 rs781562260 0.6683 None gnomAD-4.0.0 9.29885E-06
22387 34 I/M 36 rs1305023299 0.3833 None gnomAD-2.1.1 4.03E-06
22387 34 I/M 36 rs1305023299 0.3833 None gnomAD-4.0.0 3.18441E-06
22387 34 I/T 36 rs768996343 0.3833 None gnomAD-2.1.1 4.03E-06
22387 34 I/T 36 rs768996343 0.3833 None gnomAD-3.1.2 6.58E-06
22387 34 I/T 36 rs768996343 0.3833 None gnomAD-4.0.0 3.84552E-06
22387 34 I/V 36 None 0.3833 None gnomAD-4.0.0 1.59222E-06
22389 36 Y/H 38 None 0.1113 None gnomAD-4.0.0 1.36877E-06
22390 37 V/L 39 None 0.1498 None gnomAD-4.0.0 6.84382E-07
22390 37 V/M 39 rs778578056 0.1498 None gnomAD-2.1.1 4.03E-06
22390 37 V/M 39 rs778578056 0.1498 None gnomAD-4.0.0 6.84382E-07
22391 38 V/L 40 rs756952687 0.1021 None gnomAD-2.1.1 8.05E-06
22391 38 V/L 40 rs756952687 0.1021 None gnomAD-4.0.0 6.36878E-06
22392 39 Q/R 41 rs753314830 0.1494 None gnomAD-2.1.1 1.21E-05
22392 39 Q/R 41 rs753314830 0.1494 None gnomAD-4.0.0 6.84371E-06
22393 40 K/R 42 None 0.1692 None gnomAD-4.0.0 1.59213E-06
22394 41 R/C 43 rs1388705607 0.1209 None gnomAD-3.1.2 6.58E-06
22394 41 R/C 43 rs1388705607 0.1209 None gnomAD-4.0.0 1.23976E-06
22394 41 R/H 43 rs777333661 0.1209 None gnomAD-2.1.1 4.03E-06
22394 41 R/H 43 rs777333661 0.1209 None gnomAD-4.0.0 1.02657E-05
22394 41 R/P 43 None 0.1209 None gnomAD-4.0.0 6.84381E-07
22394 41 R/S 43 None 0.1209 None gnomAD-4.0.0 6.84381E-07
22395 42 D/E 44 rs924623124 0.1541 None gnomAD-2.1.1 1.21E-05
22395 42 D/E 44 rs924623124 0.1541 None gnomAD-3.1.2 6.58E-06
22395 42 D/E 44 rs924623124 0.1541 None gnomAD-4.0.0 5.12713E-06
22395 42 D/N 44 None 0.1541 None gnomAD-4.0.0 1.59214E-06
22395 42 D/V 44 None 0.1541 None gnomAD-4.0.0 1.59214E-06
22397 44 E/A 54 None 0.8741 None gnomAD-4.0.0 1.20032E-06
22397 44 E/G 54 None 0.8741 None gnomAD-4.0.0 4.80129E-06
22397 44 E/K 54 rs1163846592 0.8741 None gnomAD-3.1.2 1.32E-05
22397 44 E/K 54 rs1163846592 0.8741 None gnomAD-4.0.0 6.81847E-06
22398 45 R/K 60 None 0.5273 None gnomAD-4.0.0 1.20032E-06
22399 46 K/E 63 rs1060500421 1.0251 None gnomAD-4.0.0 1.59214E-06
22400 47 S/P 64 rs1575883693 0.5605 None gnomAD-4.0.0 1.59217E-06
22402 49 S/A 66 None 0.3489 None gnomAD-4.0.0 6.84377E-07
22402 49 S/T 66 None 0.3489 None gnomAD-4.0.0 6.84377E-07
22403 50 T/I 67 rs767363142 0.4140 None gnomAD-2.1.1 8.05E-06
22403 50 T/I 67 rs767363142 0.4140 None gnomAD-4.0.0 1.16345E-05
22404 51 V/M 68 rs369257896 0.2333 None gnomAD-2.1.1 4.29E-05
22404 51 V/M 68 rs369257896 0.2333 None gnomAD-3.1.2 3.95E-05
22404 51 V/M 68 rs369257896 0.2333 None gnomAD-4.0.0 8.86424E-05
22405 52 T/I 69 rs751337482 0.1353 None gnomAD-2.1.1 4.02E-06
22405 52 T/I 69 rs751337482 0.1353 None gnomAD-4.0.0 1.36874E-06
22406 53 T/N 70 rs766588174 0.5483 None gnomAD-2.1.1 4.02E-06
22406 53 T/N 70 rs766588174 0.5483 None gnomAD-4.0.0 1.59217E-06
22408 55 C/R 77 None 0.0944 None gnomAD-4.0.0 1.59216E-06
22408 55 C/S 77 None 0.0944 None gnomAD-4.0.0 1.59216E-06
22409 56 S/C 83 None 0.7278 None gnomAD-4.0.0 1.5922E-06
22409 56 S/F 83 rs1296710770 0.7278 None gnomAD-2.1.1 8.05E-06
22409 56 S/F 83 rs1296710770 0.7278 None gnomAD-4.0.0 7.96102E-06
22410 57 K/Q 88 rs773410270 0.7350 None gnomAD-4.0.0 3.1843E-06
22410 57 K/T 88 rs1559493839 0.7350 None gnomAD-4.0.0 1.59215E-06
22413 60 F/L 91 rs2047352976 0.2469 None gnomAD-4.0.0 3.42194E-06
22413 60 F/S 91 rs769934781 0.2469 None gnomAD-2.1.1 1.61E-05
22413 60 F/S 91 rs769934781 0.2469 None gnomAD-3.1.2 2.63E-05
22413 60 F/S 91 rs769934781 0.2469 None gnomAD-4.0.0 1.1537E-05
22413 60 F/V 91 None 0.2469 None gnomAD-4.0.0 6.84389E-07
22414 61 R/S 92 rs761987832 0.3000 None gnomAD-2.1.1 8.05E-06
22414 61 R/S 92 rs761987832 0.3000 None gnomAD-3.1.2 6.58E-06
22414 61 R/S 92 rs761987832 0.3000 None gnomAD-4.0.0 1.36877E-06
22415 62 V/A 93 rs1289988673 0.1246 None gnomAD-2.1.1 3.19E-05
22415 62 V/A 93 rs1289988673 0.1246 None gnomAD-3.1.2 6.58E-06
22415 62 V/A 93 rs1289988673 0.1246 None gnomAD-4.0.0 6.57851E-06
22415 62 V/I 93 rs2047350476 0.1246 None gnomAD-3.1.2 6.58E-06
22415 62 V/I 93 rs2047350476 0.1246 None gnomAD-4.0.0 6.57618E-06
22416 63 A/G 94 None 0.3565 None gnomAD-4.0.0 1.59219E-06
22416 63 A/P 94 rs4145333 0.3565 None gnomAD-2.1.1 9.98514E-01
22416 63 A/P 94 rs4145333 0.3565 None gnomAD-3.1.2 9.96021E-01
22416 63 A/P 94 rs4145333 0.3565 None 1000 genomes 9.94609E-01
22416 63 A/P 94 rs4145333 0.3565 None gnomAD-4.0.0 9.99095E-01
22417 64 N/Y 96 rs769066160 0.8823 None gnomAD-2.1.1 4.02E-06
22417 64 N/Y 96 rs769066160 0.8823 None gnomAD-4.0.0 1.59219E-06
22418 65 L/V 97 None 0.1326 None gnomAD-4.0.0 6.84387E-07
22419 66 E/D 98 None 0.4059 None gnomAD-4.0.0 1.20033E-06
22419 66 E/Q 98 rs1460379508 0.4059 None gnomAD-2.1.1 4.02E-06
22419 66 E/Q 98 rs1460379508 0.4059 None gnomAD-4.0.0 1.59227E-06
22420 67 E/G 99 rs1356121178 0.5754 None gnomAD-2.1.1 4.02E-06
22420 67 E/G 99 rs1356121178 0.5754 None gnomAD-4.0.0 1.20034E-06
22420 67 E/K 99 rs530426755 0.5754 None gnomAD-3.1.2 6.58E-06
22420 67 E/K 99 rs530426755 0.5754 None 1000 genomes 1.99681E-04
22420 67 E/K 99 rs530426755 0.5754 None gnomAD-4.0.0 6.57099E-06
22421 68 G/R 100 rs371992765 0.3465 None gnomAD-4.0.0 1.59232E-06
22423 70 S/C 103 None 0.2483 None gnomAD-4.0.0 8.40235E-06
22423 70 S/P 103 None 0.2483 None gnomAD-4.0.0 1.20033E-06
22424 71 Y/C 104 rs1479907727 0.1039 None gnomAD-4.0.0 1.59226E-06
22424 71 Y/H 104 rs974697497 0.1039 None gnomAD-2.1.1 4.03E-06
22424 71 Y/H 104 rs974697497 0.1039 None gnomAD-4.0.0 3.42199E-06
22424 71 Y/N 104 None 0.1039 None gnomAD-4.0.0 6.84399E-07
22424 71 Y/S 104 rs1479907727 0.1039 None gnomAD-2.1.1 4.03E-06
22425 72 F/S 105 None 0.2250 None gnomAD-4.0.0 3.18457E-06
22427 74 R/L 107 rs770566210 0.1077 None gnomAD-2.1.1 4.03E-06
22427 74 R/Q 107 rs770566210 0.1077 None gnomAD-2.1.1 8.05E-06
22427 74 R/Q 107 rs770566210 0.1077 None gnomAD-3.1.2 1.32E-05
22427 74 R/Q 107 rs770566210 0.1077 None gnomAD-4.0.0 1.05381E-05
22428 75 V/L 108 rs794729483 0.0750 None gnomAD-2.1.1 4.03E-06
22428 75 V/L 108 rs794729483 0.0750 None gnomAD-3.1.2 6.58E-06
22428 75 V/L 108 rs794729483 0.0750 None gnomAD-4.0.0 8.67838E-06
22429 76 F/L 109 rs879180662 0.1476 None gnomAD-2.1.1 4.03E-06
22429 76 F/L 109 rs879180662 0.1476 None gnomAD-4.0.0 3.18462E-06
22433 80 E/D 113 None 0.3233 None gnomAD-4.0.0 1.20032E-06
22433 80 E/G 113 rs2047336036 0.3233 None gnomAD-3.1.2 6.57E-06
22433 80 E/G 113 rs2047336036 0.3233 None gnomAD-4.0.0 6.5741E-06
22434 81 Y/N 114 rs1553623044 0.2598 None gnomAD-3.1.2 6.58E-06
22434 81 Y/N 114 rs1553623044 0.2598 None gnomAD-4.0.0 2.56399E-06
22435 82 G/V 115 None 0.1885 None gnomAD-4.0.0 1.59243E-06
22436 83 I/T 117 rs777418071 0.4387 None gnomAD-2.1.1 1.61E-05
22436 83 I/T 117 rs777418071 0.4387 None gnomAD-4.0.0 1.23195E-05
22436 83 I/V 117 None 0.4387 None gnomAD-4.0.0 1.59233E-06
22437 84 G/A 118 None 0.1405 None gnomAD-4.0.0 1.59244E-06
22437 84 G/D 118 None 0.1405 None gnomAD-4.0.0 1.59244E-06
22437 84 G/R 118 rs794727434 0.1405 None gnomAD-2.1.1 4.03E-06
22437 84 G/R 118 rs794727434 0.1405 None gnomAD-4.0.0 1.59249E-06
22437 84 G/S 118 rs794727434 0.1405 None gnomAD-3.1.2 6.58E-06
22437 84 G/S 118 rs794727434 0.1405 None gnomAD-4.0.0 2.56412E-06
22438 85 D/E 119 rs911744113 0.4274 None gnomAD-4.0.0 3.18504E-06
22438 85 D/N 119 rs755558410 0.4274 None gnomAD-2.1.1 8.06E-06
22438 85 D/N 119 rs755558410 0.4274 None gnomAD-4.0.0 1.36887E-06
22438 85 D/Y 119 None 0.4274 None gnomAD-4.0.0 6.84436E-07
22439 86 P/A 120 rs987188592 0.2582 None gnomAD-4.0.0 1.59262E-06
22440 87 G/A 121 rs2047328766 0.1525 None gnomAD-3.1.2 6.58E-06
22440 87 G/A 121 rs2047328766 0.1525 None gnomAD-4.0.0 6.57644E-06
22440 87 G/C 121 rs727503576 0.1525 None gnomAD-2.1.1 4.03E-06
22440 87 G/C 121 rs727503576 0.1525 None gnomAD-4.0.0 3.42245E-06
22440 87 G/S 121 rs727503576 0.1525 None gnomAD-3.1.2 1.97E-05
22440 87 G/S 121 rs727503576 0.1525 None gnomAD-4.0.0 9.29982E-06
22441 88 E/G 122 rs201223583 0.3034 None gnomAD-2.1.1 5.24E-05
22441 88 E/G 122 rs201223583 0.3034 None gnomAD-3.1.2 5.26E-05
22441 88 E/G 122 rs201223583 0.3034 None gnomAD-4.0.0 1.34525E-04
22443 90 R/C 124 rs1304938868 0.7099 None gnomAD-2.1.1 8.07E-06
22443 90 R/C 124 rs1304938868 0.7099 None gnomAD-3.1.2 6.58E-06
22443 90 R/C 124 rs1304938868 0.7099 None gnomAD-4.0.0 6.41095E-06
22443 90 R/H 124 rs1389670032 0.7099 None gnomAD-2.1.1 1.07E-05
22443 90 R/H 124 rs1389670032 0.7099 None gnomAD-3.1.2 6.58E-06
22443 90 R/H 124 rs1389670032 0.7099 None gnomAD-4.0.0 9.91934E-06
22444 91 D/E 125 None 0.5048 None gnomAD-4.0.0 6.84463E-07
22445 92 A/T 126 None 0.2771 None gnomAD-4.0.0 1.20032E-06
22445 92 A/V 126 rs1375354094 0.2771 None gnomAD-2.1.1 4.04E-06
22445 92 A/V 126 rs1375354094 0.2771 None gnomAD-4.0.0 1.59286E-06
22446 93 V/A 127 rs751361453 0.3068 None gnomAD-2.1.1 4.04E-06
22446 93 V/I 127 rs113934347 0.3068 None gnomAD-4.0.0 1.36899E-06
22446 93 V/L 127 None 0.3068 None gnomAD-4.0.0 6.84495E-07
22447 94 K/R 129 rs766331736 0.4925 None gnomAD-2.1.1 4.04E-06
22447 94 K/R 129 rs766331736 0.4925 None gnomAD-4.0.0 4.77812E-06
22448 95 A/S 130 rs2047323324 0.0973 None gnomAD-3.1.2 6.58E-06
22448 95 A/S 130 rs2047323324 0.0973 None gnomAD-4.0.0 5.07546E-06
22448 95 A/V 130 None 0.0973 None gnomAD-4.0.0 1.36899E-06
22450 97 Q/K 132 None 0.5425 None gnomAD-4.0.0 6.84565E-07
22450 97 Q/P 132 None 0.5425 None gnomAD-4.0.0 1.59425E-06