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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17470 1 P/L 1 rs372618781 0.4151 None gnomAD-2.1.1 4.81E-06
17470 1 P/L 1 rs372618781 0.4151 None gnomAD-4.0.0 7.01129E-07
17470 1 P/Q 1 rs372618781 0.4151 None gnomAD-2.1.1 5.77E-05
17470 1 P/Q 1 rs372618781 0.4151 None gnomAD-3.1.2 2.63E-05
17470 1 P/Q 1 rs372618781 0.4151 None gnomAD-4.0.0 2.09105E-05
17470 1 P/T 1 None 0.4151 None gnomAD-4.0.0 1.6867E-06
17471 2 P/L 2 None 0.1154 None gnomAD-4.0.0 6.99387E-07
17471 2 P/S 2 rs551867239 0.1154 None gnomAD-2.1.1 1.41E-05
17471 2 P/S 2 rs551867239 0.1154 None gnomAD-3.1.2 6.58E-06
17471 2 P/S 2 rs551867239 0.1154 None 1000 genomes 1.99681E-04
17471 2 P/S 2 rs551867239 0.1154 None gnomAD-4.0.0 4.42579E-06
17472 3 D/E 3 rs367794487 0.4400 None gnomAD-2.1.1 4.47E-06
17472 3 D/E 3 rs367794487 0.4400 None gnomAD-4.0.0 6.93613E-07
17472 3 D/N 3 rs727503614 0.4400 None gnomAD-2.1.1 9.38E-06
17472 3 D/N 3 rs727503614 0.4400 None gnomAD-3.1.2 6.58E-06
17472 3 D/N 3 rs727503614 0.4400 None gnomAD-4.0.0 2.53076E-06
17473 4 A/V 4 rs1408028554 0.3103 None gnomAD-4.0.0 2.08187E-06
17475 6 D/E 6 rs1176767614 0.7509 None gnomAD-2.1.1 4.35E-06
17475 6 D/E 6 rs1176767614 0.7509 None gnomAD-4.0.0 1.62648E-06
17476 7 K/E 7 rs766412743 0.3480 None gnomAD-2.1.1 8.65E-06
17476 7 K/E 7 rs766412743 0.3480 None gnomAD-4.0.0 4.87377E-06
17478 9 I/M 11 rs554368924 0.6757 None gnomAD-2.1.1 2.98E-05
17478 9 I/M 11 rs554368924 0.6757 None gnomAD-3.1.2 3.95E-05
17478 9 I/M 11 rs554368924 0.6757 None gnomAD-4.0.0 1.80627E-05
17478 9 I/T 11 rs1178377744 0.6757 None gnomAD-2.1.1 1.27E-05
17478 9 I/T 11 rs1178377744 0.6757 None gnomAD-4.0.0 8.0622E-06
17480 11 E/Q 13 rs2055452595 0.4272 None gnomAD-4.0.0 8.25532E-06
17481 12 D/E 14 None 0.6678 None gnomAD-4.0.0 1.20032E-06
17481 12 D/G 14 rs773362408 0.6678 None gnomAD-2.1.1 1.26E-05
17481 12 D/G 14 rs773362408 0.6678 None gnomAD-4.0.0 3.43631E-06
17481 12 D/H 14 rs975141016 0.6678 None gnomAD-3.1.2 1.32E-05
17481 12 D/H 14 rs975141016 0.6678 None gnomAD-4.0.0 3.87762E-06
17482 13 V/A 15 rs765605129 0.2318 None gnomAD-2.1.1 4.2E-06
17482 13 V/A 15 rs765605129 0.2318 None gnomAD-4.0.0 6.87298E-07
17483 14 T/A 16 None 0.2247 None gnomAD-4.0.0 1.60622E-06
17484 15 S/I 17 None 0.1881 None gnomAD-4.0.0 6.87006E-07
17484 15 S/N 17 None 0.1881 None gnomAD-4.0.0 6.87006E-07
17484 15 S/T 17 None 0.1881 None gnomAD-4.0.0 6.87006E-07
17485 16 N/S 18 rs965152631 0.4339 None gnomAD-4.0.0 1.20032E-06
17487 18 M/T 20 rs371758040 0.0789 None gnomAD-2.1.1 1.66E-05
17487 18 M/T 20 rs371758040 0.0789 None gnomAD-4.0.0 2.81355E-05
17487 18 M/V 20 None 0.0789 None gnomAD-4.0.0 1.20032E-06
17489 20 V/A 22 rs1337777235 0.0881 None gnomAD-3.1.2 6.58E-06
17489 20 V/A 22 rs1337777235 0.0881 None gnomAD-4.0.0 6.57938E-06
17489 20 V/G 22 rs1337777235 0.0881 None gnomAD-4.0.0 1.60143E-06
17489 20 V/M 22 rs1474043001 0.0881 None gnomAD-4.0.0 1.37218E-06
17492 23 N/D 25 None 0.7377 None gnomAD-4.0.0 1.60022E-06
17492 23 N/K 25 rs769123120 0.7377 None gnomAD-2.1.1 1.24E-05
17492 23 N/K 25 rs769123120 0.7377 None gnomAD-4.0.0 3.42926E-06
17493 24 E/G 26 rs2055442864 0.5653 None gnomAD-3.1.2 6.58E-06
17493 24 E/G 26 rs2055442864 0.5653 None gnomAD-4.0.0 6.57843E-06
17493 24 E/Q 26 rs1046078803 0.5653 None gnomAD-2.1.1 4.14E-06
17493 24 E/Q 26 rs1046078803 0.5653 None gnomAD-4.0.0 8.00538E-06
17496 27 D/E 30 rs1227243648 0.3178 None gnomAD-3.1.2 6.58E-06
17496 27 D/E 30 rs1227243648 0.3178 None gnomAD-4.0.0 3.85855E-06
17496 27 D/H 30 None 0.3178 None gnomAD-4.0.0 3.19873E-06
17496 27 D/V 30 rs1224355854 0.3178 None gnomAD-2.1.1 7.3E-06
17496 27 D/V 30 rs1224355854 0.3178 None gnomAD-3.1.2 1.97E-05
17496 27 D/V 30 rs1224355854 0.3178 None gnomAD-4.0.0 6.43218E-06
17496 27 D/Y 30 rs2055441227 0.3178 None gnomAD-4.0.0 1.59937E-06
17497 28 N/D 31 None 0.3014 None gnomAD-4.0.0 6.85611E-07
17497 28 N/S 31 None 0.3014 None gnomAD-4.0.0 3.60097E-06
17498 29 G/A 32 None 0.3934 None gnomAD-4.0.0 1.20032E-06
17498 29 G/R 32 rs1314384507 0.3934 None gnomAD-2.1.1 4.11E-06
17499 30 S/N 33 rs1293305339 0.1232 None gnomAD-4.0.0 1.59857E-06
17499 30 S/R 33 rs774188747 0.1232 None gnomAD-2.1.1 4.1E-06
17499 30 S/R 33 rs774188747 0.1232 None gnomAD-4.0.0 6.85411E-07
17500 31 P/H 34 rs1384771900 0.6808 None gnomAD-2.1.1 8.19E-06
17500 31 P/S 34 None 0.6808 None gnomAD-4.0.0 1.20032E-06
17502 33 L/S 36 rs368013299 0.4933 None gnomAD-2.1.1 1.09E-05
17502 33 L/S 36 rs368013299 0.4933 None gnomAD-3.1.2 1.97E-05
17502 33 L/S 36 rs368013299 0.4933 None gnomAD-4.0.0 4.9642E-06
17502 33 L/W 36 rs368013299 0.4933 None gnomAD-3.1.2 6.58E-06
17502 33 L/W 36 rs368013299 0.4933 None gnomAD-4.0.0 6.57825E-06
17503 34 G/R 37 None 0.0999 None gnomAD-4.0.0 1.59617E-06
17503 34 G/V 37 None 0.0999 None gnomAD-4.0.0 4.80129E-06
17504 35 Y/C 38 rs1343011962 0.1024 None gnomAD-2.1.1 4.07E-06
17504 35 Y/C 38 rs1343011962 0.1024 None gnomAD-4.0.0 1.59562E-06
17505 36 W/C 39 rs1160660090 0.2125 None gnomAD-2.1.1 4.07E-06
17505 36 W/C 39 rs1160660090 0.2125 None gnomAD-4.0.0 1.59558E-06
17506 37 L/I 40 None 0.1046 None gnomAD-4.0.0 1.36993E-06
17507 38 E/G 41 None 0.0953 None gnomAD-4.0.0 1.20032E-06
17509 40 R/C 43 rs748170111 0.1867 None gnomAD-2.1.1 8.14E-06
17509 40 R/C 43 rs748170111 0.1867 None gnomAD-3.1.2 1.98E-05
17509 40 R/C 43 rs748170111 0.1867 None gnomAD-4.0.0 4.96392E-06
17509 40 R/H 43 rs886055267 0.1867 None gnomAD-2.1.1 3.24E-05
17509 40 R/H 43 rs886055267 0.1867 None gnomAD-3.1.2 1.32E-05
17509 40 R/H 43 rs886055267 0.1867 None gnomAD-4.0.0 3.16389E-05
17510 41 E/D 44 None 0.2891 None gnomAD-4.0.0 1.20032E-06
17510 41 E/K 44 rs754803968 0.2891 None gnomAD-2.1.1 8.12E-06
17510 41 E/K 44 rs754803968 0.2891 None gnomAD-3.1.2 6.58E-06
17510 41 E/K 44 rs754803968 0.2891 None gnomAD-4.0.0 3.85166E-06
17511 42 V/L 45 rs1446269783 0.4300 None gnomAD-2.1.1 3.19E-05
17511 42 V/L 45 rs1446269783 0.4300 None gnomAD-3.1.2 6.58E-06
17511 42 V/L 45 rs1446269783 0.4300 None gnomAD-4.0.0 6.41858E-06
17512 43 N/D 51 rs528550177 0.8410 None gnomAD-3.1.2 1.32E-05
17512 43 N/D 51 rs528550177 0.8410 None 1000 genomes 1.99681E-04
17512 43 N/D 51 rs528550177 0.8410 None gnomAD-4.0.0 3.85025E-06
17512 43 N/I 51 rs1446942544 0.8410 None gnomAD-2.1.1 4.05E-06
17512 43 N/I 51 rs1446942544 0.8410 None gnomAD-4.0.0 1.5946E-06
17512 43 N/K 51 rs199615557 0.8410 None gnomAD-2.1.1 3.23732E-04
17512 43 N/K 51 rs199615557 0.8410 None gnomAD-3.1.2 3.48905E-04
17512 43 N/K 51 rs199615557 0.8410 None gnomAD-4.0.0 5.21035E-04
17512 43 N/S 51 rs1446942544 0.8410 None gnomAD-2.1.1 4.05E-06
17512 43 N/S 51 rs1446942544 0.8410 None gnomAD-4.0.0 1.5946E-06
17514 45 T/I 63 None 0.9299 None gnomAD-4.0.0 1.3696E-06
17514 45 T/P 63 rs1470590917 0.9299 None gnomAD-3.1.2 6.58E-06
17514 45 T/P 63 rs1470590917 0.9299 None gnomAD-4.0.0 6.58025E-06
17515 46 H/N 64 rs1576373600 0.7120 None gnomAD-3.1.2 6.58E-06
17515 46 H/N 64 rs1576373600 0.7120 None gnomAD-4.0.0 4.34181E-06
17515 46 H/P 64 None 0.7120 None gnomAD-4.0.0 6.84776E-07
17515 46 H/R 64 rs1319404770 0.7120 None gnomAD-4.0.0 4.79343E-06
17515 46 H/Y 64 None 0.7120 None gnomAD-4.0.0 2.05436E-06
17517 48 S/P 66 None 0.3063 None gnomAD-4.0.0 4.78289E-06
17518 49 R/C 67 rs200974180 0.3433 None gnomAD-2.1.1 7.18E-06
17518 49 R/C 67 rs200974180 0.3433 None gnomAD-3.1.2 6.58E-06
17518 49 R/C 67 rs200974180 0.3433 None gnomAD-4.0.0 5.58226E-06
17518 49 R/H 67 rs559590585 0.3433 None gnomAD-2.1.1 4.05E-05
17518 49 R/H 67 rs559590585 0.3433 None gnomAD-3.1.2 2.63E-05
17518 49 R/H 67 rs559590585 0.3433 None 1000 genomes 1.99681E-04
17518 49 R/H 67 rs559590585 0.3433 None gnomAD-4.0.0 1.6746E-05
17518 49 R/P 67 rs559590585 0.3433 None gnomAD-4.0.0 6.84789E-07
17519 50 V/F 68 None 0.2945 None gnomAD-4.0.0 1.59428E-06
17521 52 K/E 70 rs794729456 1.0433 None gnomAD-2.1.1 4.05E-06
17521 52 K/E 70 rs794729456 1.0433 None gnomAD-3.1.2 6.58E-06
17521 52 K/E 70 rs794729456 1.0433 None gnomAD-4.0.0 2.56658E-06
17521 52 K/R 70 None 1.0433 None gnomAD-4.0.0 3.42372E-06
17522 53 S/G 72 None 0.5474 None gnomAD-4.0.0 6.84751E-07
17522 53 S/N 72 None 0.5474 None gnomAD-4.0.0 1.59432E-06
17522 53 S/R 72 None 0.5474 None gnomAD-4.0.0 6.84751E-07
17526 57 A/T 88 rs1313172755 0.3453 None gnomAD-2.1.1 4.05E-06
17526 57 A/T 88 rs1313172755 0.3453 None gnomAD-4.0.0 3.18894E-06
17529 60 A/T 91 rs1379034586 0.1909 None gnomAD-2.1.1 3.19E-05
17529 60 A/T 91 rs1379034586 0.1909 None gnomAD-3.1.2 6.58E-06
17529 60 A/T 91 rs1379034586 0.1909 None gnomAD-4.0.0 3.72166E-06
17530 61 N/K 92 rs777245474 0.4520 None gnomAD-2.1.1 4.05E-06
17530 61 N/K 92 rs777245474 0.4520 None gnomAD-4.0.0 6.84862E-07
17530 61 N/S 92 rs762214300 0.4520 None gnomAD-2.1.1 7.91E-05
17530 61 N/S 92 rs762214300 0.4520 None gnomAD-3.1.2 2.63E-05
17530 61 N/S 92 rs762214300 0.4520 None gnomAD-4.0.0 4.34203E-05
17531 62 V/A 93 rs764524150 0.1331 None gnomAD-2.1.1 8.1E-06
17531 62 V/A 93 rs764524150 0.1331 None gnomAD-3.1.2 6.58E-06
17531 62 V/A 93 rs764524150 0.1331 None gnomAD-4.0.0 3.72175E-06
17531 62 V/I 93 None 0.1331 None gnomAD-4.0.0 6.00161E-06
17532 63 D/G 94 rs1401966542 0.5177 None gnomAD-3.1.2 1.32E-05
17532 63 D/G 94 rs1401966542 0.5177 None gnomAD-4.0.0 1.86094E-06
17532 63 D/H 94 None 0.5177 None gnomAD-4.0.0 4.80129E-06
17532 63 D/V 94 None 0.5177 None gnomAD-4.0.0 6.84882E-07
17533 64 G/C 96 rs2055410849 0.3859 None gnomAD-3.1.2 6.58E-06
17533 64 G/C 96 rs2055410849 0.3859 None gnomAD-4.0.0 6.58111E-06
17535 66 L/V 98 None 0.7330 None gnomAD-4.0.0 1.59531E-06
17536 67 E/G 99 rs776023005 0.6386 None gnomAD-2.1.1 4.06E-06
17536 67 E/G 99 rs776023005 0.6386 None gnomAD-4.0.0 1.59565E-06
17537 68 G/R 100 rs370766845 0.3881 None gnomAD-2.1.1 4.07E-06
17537 68 G/R 100 rs370766845 0.3881 None gnomAD-4.0.0 2.40064E-06
17540 71 Y/C 104 rs1013723159 0.1273 None gnomAD-3.1.2 6.58E-06
17540 71 Y/C 104 rs1013723159 0.1273 None gnomAD-4.0.0 3.10274E-06
17541 72 V/I 105 rs772579140 0.1089 None gnomAD-2.1.1 4.07E-06
17545 76 C/R 109 rs1444767974 0.0776 None gnomAD-2.1.1 3.19E-05
17545 76 C/R 109 rs1444767974 0.0776 None gnomAD-3.1.2 6.58E-06
17545 76 C/R 109 rs1444767974 0.0776 None gnomAD-4.0.0 1.86349E-06
17547 78 E/A 111 None 0.1724 None gnomAD-4.0.0 4.12132E-06
17547 78 E/G 111 rs2055401286 0.1724 None gnomAD-3.1.2 6.58E-06
17547 78 E/G 111 rs2055401286 0.1724 None gnomAD-4.0.0 6.57748E-06
17547 78 E/K 111 None 0.1724 None gnomAD-4.0.0 2.74811E-06
17548 79 N/I 112 None 0.0775 None gnomAD-4.0.0 1.60701E-06
17548 79 N/K 112 rs1490235327 0.0775 None gnomAD-2.1.1 4.12E-06
17548 79 N/K 112 rs1490235327 0.0775 None gnomAD-4.0.0 1.60722E-06
17549 80 A/E 113 None 0.3115 None gnomAD-4.0.0 6.87402E-07
17552 83 P/S 116 rs1266887478 0.5011 None gnomAD-2.1.1 4.13E-06
17552 83 P/S 116 rs1266887478 0.5011 None gnomAD-3.1.2 6.58E-06
17552 83 P/S 116 rs1266887478 0.5011 None gnomAD-4.0.0 2.58685E-06
17553 84 G/E 118 rs746747781 0.1968 None gnomAD-2.1.1 8.29E-06
17553 84 G/E 118 rs746747781 0.1968 None gnomAD-3.1.2 6.58E-06
17553 84 G/E 118 rs746747781 0.1968 None gnomAD-4.0.0 1.86856E-06
17554 85 K/N 119 rs758615635 0.9051 None gnomAD-2.1.1 4.15E-06
17554 85 K/N 119 rs758615635 0.9051 None gnomAD-4.0.0 1.61373E-06
17556 87 S/N 121 rs750715335 0.1052 None gnomAD-2.1.1 1.25E-05
17556 87 S/N 121 rs750715335 0.1052 None gnomAD-4.0.0 1.03277E-05
17557 88 P/S 122 rs986749140 0.4455 None gnomAD-3.1.2 6.58E-06
17557 88 P/S 122 rs986749140 0.4455 None gnomAD-4.0.0 1.86965E-06
17558 89 P/S 123 rs374845620 0.3607 None gnomAD-2.1.1 4.16E-06
17558 89 P/S 123 rs374845620 0.3607 None gnomAD-3.1.2 6.58E-06
17559 90 S/A 124 rs2055393436 0.1108 None gnomAD-4.0.0 1.20032E-05
17560 91 D/G 125 None 0.7027 None gnomAD-4.0.0 1.61662E-06
17560 91 D/H 125 None 0.7027 None gnomAD-4.0.0 6.88993E-07
17560 91 D/V 125 rs954068043 0.7027 None gnomAD-3.1.2 1.32E-05
17560 91 D/V 125 rs954068043 0.7027 None gnomAD-4.0.0 5.19085E-06
17561 92 P/H 126 rs1344423828 0.4881 None gnomAD-2.1.1 4.18E-06
17561 92 P/H 126 rs1344423828 0.4881 None gnomAD-4.0.0 1.61864E-06
17564 95 A/V 130 None 0.0752 None gnomAD-4.0.0 1.62001E-06
17565 96 H/D 131 rs370126872 0.5227 None gnomAD-2.1.1 2.94E-05
17565 96 H/D 131 rs370126872 0.5227 None gnomAD-3.1.2 3.29E-05
17565 96 H/D 131 rs370126872 0.5227 None gnomAD-4.0.0 3.43237E-05
17565 96 H/N 131 None 0.5227 None gnomAD-2.1.1 1.85E-05
17565 96 H/N 131 None 0.5227 None gnomAD-3.1.2 1.32E-05
17565 96 H/N 131 None 0.5227 None gnomAD-4.0.0 4.99254E-06
17565 96 H/Q 131 None 0.5227 None gnomAD-4.0.0 1.61956E-06
17565 96 H/R 131 None 0.5227 None gnomAD-4.0.0 1.62009E-06
17565 96 H/Y 131 rs370126872 0.5227 None gnomAD-3.1.2 6.58E-06
17566 97 D/Y 132 None 0.5279 None gnomAD-4.0.0 1.62105E-06