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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32600 1 P/A 1 None 0.4995 None gnomAD-4.0.0 1.59954E-06
32600 1 P/T 1 None 0.4995 None gnomAD-4.0.0 1.59954E-06
32601 2 P/L 2 rs745324961 0.1372 None gnomAD-2.1.1 8.13E-06
32601 2 P/L 2 rs745324961 0.1372 None gnomAD-4.0.0 3.19649E-06
32602 3 G/E 3 None 0.2131 None gnomAD-4.0.0 1.59773E-06
32603 4 K/R 4 rs778929590 0.6033 None gnomAD-2.1.1 4.05E-06
32603 4 K/R 4 rs778929590 0.6033 None gnomAD-3.1.2 6.57E-06
32603 4 K/R 4 rs778929590 0.6033 None gnomAD-4.0.0 6.57047E-06
32604 5 P/S 5 None 0.1165 None gnomAD-4.0.0 2.4007E-06
32606 7 N/S 7 None 0.7342 None gnomAD-4.0.0 1.59441E-06
32608 9 R/K 11 rs757187219 0.3814 None gnomAD-2.1.1 8.06E-06
32608 9 R/K 11 rs757187219 0.3814 None gnomAD-4.0.0 1.3691E-06
32608 9 R/T 11 rs757187219 0.3814 None gnomAD-4.0.0 6.8455E-07
32609 10 V/D 12 None 0.2964 None gnomAD-4.0.0 6.84508E-07
32609 10 V/I 12 rs2154140602 0.2964 None gnomAD-3.1.2 6.57E-06
32609 10 V/I 12 rs2154140602 0.2964 None gnomAD-4.0.0 2.56378E-06
32610 11 T/A 13 None 0.3411 None gnomAD-4.0.0 1.59197E-06
32610 11 T/I 13 None 0.3411 None gnomAD-4.0.0 1.59201E-06
32611 12 D/H 14 None 0.5020 None gnomAD-4.0.0 3.18398E-06
32612 13 T/A 15 rs1391570506 0.1788 None gnomAD-3.1.2 6.57E-06
32612 13 T/A 15 rs1391570506 0.1788 None gnomAD-4.0.0 2.02984E-06
32612 13 T/R 15 None 0.1788 None gnomAD-4.0.0 1.20034E-06
32613 14 T/K 16 None 0.3115 None gnomAD-4.0.0 6.00175E-06
32614 15 R/G 17 rs1393941873 0.5010 None gnomAD-2.1.1 4.02E-06
32614 15 R/G 17 rs1393941873 0.5010 None gnomAD-4.0.0 1.59165E-06
32614 15 R/K 17 rs1449718785 0.5010 None gnomAD-4.0.0 1.59167E-06
32616 17 S/T 19 None 0.1549 None gnomAD-4.0.0 3.60098E-06
32617 18 V/A 20 rs398124461 0.1113 None gnomAD-2.1.1 1.07E-05
32617 18 V/A 20 rs398124461 0.1113 None gnomAD-3.1.2 1.31E-05
32617 18 V/A 20 rs398124461 0.1113 None gnomAD-4.0.0 1.11555E-05
32620 21 A/V 23 rs397517772 0.1168 None gnomAD-2.1.1 2.39077E-04
32620 21 A/V 23 rs397517772 0.1168 None gnomAD-3.1.2 1.51212E-04
32620 21 A/V 23 rs397517772 0.1168 None gnomAD-4.0.0 1.4192E-04
32622 23 S/N 25 rs777613491 0.3190 None gnomAD-2.1.1 8.04E-06
32622 23 S/N 25 rs777613491 0.3190 None gnomAD-4.0.0 3.4211E-06
32622 23 S/R 25 rs1693783510 0.3190 None gnomAD-4.0.0 1.59133E-06
32623 24 V/A 26 rs1171694976 0.4950 None gnomAD-2.1.1 4.02E-06
32623 24 V/A 26 rs1171694976 0.4950 None gnomAD-4.0.0 1.5913E-06
32625 26 E/G 28 None 0.8473 None gnomAD-4.0.0 1.59127E-06
32626 27 D/N 29 None 0.6247 None gnomAD-4.0.0 6.00165E-06
32626 27 D/Y 29 None 0.6247 None gnomAD-4.0.0 1.20033E-06
32627 28 E/D 30 None 0.3143 None gnomAD-4.0.0 1.20032E-06
32627 28 E/K 30 None 0.3143 None gnomAD-4.0.0 1.20032E-06
32628 29 G/R 31 rs1693781320 0.2987 None gnomAD-4.0.0 2.05262E-06
32629 30 G/A 32 None 0.7953 None gnomAD-4.0.0 4.78942E-06
32629 30 G/R 32 rs767456906 0.7953 None gnomAD-2.1.1 4.02E-06
32629 30 G/R 32 rs767456906 0.7953 None gnomAD-3.1.2 6.57E-06
32629 30 G/R 32 rs767456906 0.7953 None gnomAD-4.0.0 1.05348E-05
32630 31 S/A 33 rs1553512070 0.2945 None gnomAD-4.0.0 3.18243E-06
32630 31 S/F 33 None 0.2945 None gnomAD-4.0.0 6.84202E-07
32630 31 S/P 33 rs1553512070 0.2945 None gnomAD-4.0.0 1.59122E-06
32630 31 S/Y 33 None 0.2945 None gnomAD-4.0.0 1.3684E-06
32631 32 K/I 34 rs944963846 0.8731 None gnomAD-2.1.1 4.02E-06
32631 32 K/I 34 rs944963846 0.8731 None gnomAD-3.1.2 6.57E-06
32631 32 K/I 34 rs944963846 0.8731 None gnomAD-4.0.0 3.84309E-06
32632 33 V/L 35 None 0.1783 None gnomAD-4.0.0 1.20032E-06
32633 34 T/I 36 rs879182102 0.3719 None gnomAD-2.1.1 7.13E-06
32633 34 T/I 36 rs879182102 0.3719 None gnomAD-3.1.2 6.57E-06
32633 34 T/I 36 rs879182102 0.3719 None gnomAD-4.0.0 6.57255E-06
32633 34 T/R 36 rs879182102 0.3719 None gnomAD-4.0.0 1.36839E-06
32634 35 G/A 37 rs752930173 0.0809 None gnomAD-2.1.1 1.07E-05
32634 35 G/A 37 rs752930173 0.0809 None gnomAD-3.1.2 3.29E-05
32634 35 G/A 37 rs752930173 0.0809 None gnomAD-4.0.0 6.81655E-06
32634 35 G/D 37 None 0.0809 None gnomAD-2.1.1 7.13E-06
32634 35 G/D 37 None 0.0809 None gnomAD-3.1.2 6.57E-06
32634 35 G/D 37 None 0.0809 None gnomAD-4.0.0 1.85906E-06
32634 35 G/V 37 rs752930173 0.0809 None gnomAD-4.0.0 6.84189E-07
32636 37 L/F 39 rs767660102 0.1855 None gnomAD-2.1.1 4.02E-06
32636 37 L/F 39 rs767660102 0.1855 None gnomAD-4.0.0 1.59117E-06
32637 38 I/T 40 rs794729547 0.0826 None gnomAD-2.1.1 7.13E-06
32637 38 I/T 40 rs794729547 0.0826 None gnomAD-3.1.2 6.57E-06
32637 38 I/T 40 rs794729547 0.0826 None gnomAD-4.0.0 4.95755E-06
32637 38 I/V 40 rs572465445 0.0826 None gnomAD-2.1.1 4.02E-06
32637 38 I/V 40 rs572465445 0.0826 None gnomAD-3.1.2 6.57E-06
32637 38 I/V 40 rs572465445 0.0826 None 1000 genomes 1.99681E-04
32637 38 I/V 40 rs572465445 0.0826 None gnomAD-4.0.0 6.56668E-06
32639 40 M/I 42 None 0.1647 None gnomAD-4.0.0 1.20032E-06
32639 40 M/R 42 rs1199241360 0.1647 None gnomAD-2.1.1 4.02E-06
32639 40 M/R 42 rs1199241360 0.1647 None gnomAD-4.0.0 1.59118E-06
32642 43 V/A 50 rs1575367028 0.4632 None gnomAD-4.0.0 1.59116E-06
32643 44 D/G 54 None 0.5975 None gnomAD-4.0.0 1.59117E-06
32643 44 D/Y 54 rs188081737 0.5975 None gnomAD-2.1.1 4.02E-06
32643 44 D/Y 54 rs188081737 0.5975 None gnomAD-3.1.2 6.58E-06
32643 44 D/Y 54 rs188081737 0.5975 None 1000 genomes 1.99681E-04
32643 44 D/Y 54 rs188081737 0.5975 None gnomAD-4.0.0 5.1239E-06
32644 45 Q/H 60 rs773841779 0.4655 None gnomAD-2.1.1 1.61E-05
32644 45 Q/H 60 rs773841779 0.4655 None gnomAD-4.0.0 3.42098E-06
32647 48 W/R 65 None 0.2635 None gnomAD-4.0.0 1.36838E-06
32648 49 T/N 66 rs775309560 0.5637 None gnomAD-2.1.1 8.03E-06
32648 49 T/N 66 rs775309560 0.5637 None gnomAD-3.1.2 1.32E-05
32648 49 T/N 66 rs775309560 0.5637 None gnomAD-4.0.0 1.42537E-05
32648 49 T/P 66 rs762198397 0.5637 None gnomAD-2.1.1 4.02E-06
32648 49 T/P 66 rs762198397 0.5637 None gnomAD-4.0.0 1.59116E-06
32649 50 K/E 67 None 0.5511 None gnomAD-4.0.0 1.59117E-06
32649 50 K/N 67 rs773776767 0.5511 None gnomAD-2.1.1 4.02E-06
32649 50 K/N 67 rs773776767 0.5511 None gnomAD-3.1.2 6.58E-06
32649 50 K/N 67 rs773776767 0.5511 None gnomAD-4.0.0 1.6241E-05
32649 50 K/T 67 rs759201494 0.5511 None gnomAD-2.1.1 8.03E-06
32649 50 K/T 67 rs759201494 0.5511 None gnomAD-3.1.2 3.29E-05
32649 50 K/T 67 rs759201494 0.5511 None gnomAD-4.0.0 4.95775E-06
32650 51 C/S 68 rs770473138 0.2307 None gnomAD-2.1.1 4.02E-06
32650 51 C/Y 68 rs535612231 0.2307 None gnomAD-2.1.1 1.07E-05
32650 51 C/Y 68 rs535612231 0.2307 None gnomAD-3.1.2 6.58E-05
32650 51 C/Y 68 rs535612231 0.2307 None 1000 genomes 1.99681E-04
32650 51 C/Y 68 rs535612231 0.2307 None gnomAD-4.0.0 9.91531E-06
32651 52 N/D 69 rs990374887 0.1667 None gnomAD-2.1.1 4.02E-06
32651 52 N/D 69 rs990374887 0.1667 None gnomAD-4.0.0 2.05259E-06
32651 52 N/K 69 rs777633696 0.1667 None gnomAD-2.1.1 4.02E-06
32651 52 N/K 69 rs777633696 0.1667 None gnomAD-4.0.0 6.84196E-07
32651 52 N/S 69 None 0.1667 None gnomAD-4.0.0 6.84198E-07
32651 52 N/T 69 rs794729548 0.1667 None gnomAD-4.0.0 2.73679E-06
32651 52 N/Y 69 rs990374887 0.1667 None gnomAD-4.0.0 1.36839E-06
32652 53 T/S 70 None 0.9035 None gnomAD-4.0.0 1.20032E-06
32654 55 P/L 75 None 0.2768 None gnomAD-4.0.0 1.5912E-06
32655 56 T/A 77 None 0.1868 None gnomAD-4.0.0 1.20032E-06
32656 57 K/N 83 None 0.6762 None gnomAD-4.0.0 1.20032E-06
32657 58 I/M 88 rs761994900 0.4473 None gnomAD-4.0.0 2.73675E-06
32657 58 I/N 88 None 0.4473 None gnomAD-4.0.0 1.59115E-06
32658 59 R/G 89 None 0.5004 None gnomAD-4.0.0 6.84191E-07
32658 59 R/Q 89 rs769581585 0.5004 None gnomAD-2.1.1 4.02E-05
32658 59 R/Q 89 rs769581585 0.5004 None gnomAD-4.0.0 1.36839E-05
32659 60 E/K 90 None 0.4898 None gnomAD-4.0.0 3.18234E-06
32659 60 E/Q 90 None 0.4898 None gnomAD-4.0.0 1.59117E-06
32659 60 E/V 90 rs747898161 0.4898 None gnomAD-2.1.1 8.03E-06
32659 60 E/V 90 rs747898161 0.4898 None gnomAD-3.1.2 6.57E-06
32659 60 E/V 90 rs747898161 0.4898 None gnomAD-4.0.0 3.84307E-06
32660 61 Y/H 91 rs781416687 0.2880 None gnomAD-3.1.2 6.58E-06
32660 61 Y/H 91 rs781416687 0.2880 None gnomAD-4.0.0 6.58137E-06
32661 62 T/I 92 rs1427043562 0.3781 None gnomAD-3.1.2 6.57E-06
32661 62 T/I 92 rs1427043562 0.3781 None gnomAD-4.0.0 6.57324E-06
32663 64 T/I 94 None 0.4368 None gnomAD-4.0.0 1.59118E-06
32664 65 H/Q 96 rs794729549 0.8868 None gnomAD-4.0.0 8.21042E-06
32666 67 P/L 98 rs1031941089 0.5088 None gnomAD-2.1.1 3.19E-05
32666 67 P/L 98 rs1031941089 0.5088 None gnomAD-3.1.2 6.57E-06
32666 67 P/L 98 rs1031941089 0.5088 None gnomAD-4.0.0 2.56208E-06
32666 67 P/R 98 rs1031941089 0.5088 None gnomAD-4.0.0 1.5912E-06
32666 67 P/T 98 None 0.5088 None gnomAD-4.0.0 1.59121E-06
32668 69 G/D 100 rs1185928509 0.2862 None gnomAD-2.1.1 1.61E-05
32668 69 G/D 100 rs1185928509 0.2862 None gnomAD-4.0.0 7.95623E-06
32668 69 G/V 100 rs1185928509 0.2862 None gnomAD-3.1.2 6.57E-06
32668 69 G/V 100 rs1185928509 0.2862 None gnomAD-4.0.0 6.57237E-06
32669 70 A/T 102 None 0.1578 None gnomAD-4.0.0 1.59129E-06
32670 71 E/K 103 rs1693724796 0.3552 None gnomAD-3.1.2 6.57E-06
32670 71 E/K 103 rs1693724796 0.3552 None gnomAD-4.0.0 6.57203E-06
32672 73 R/S 105 None 0.4385 None gnomAD-4.0.0 1.59145E-06
32673 74 F/V 106 None 0.1256 None gnomAD-4.0.0 1.59154E-06
32674 75 R/C 107 rs374471511 0.1515 None gnomAD-2.1.1 3.22E-05
32674 75 R/C 107 rs374471511 0.1515 None gnomAD-3.1.2 1.97E-05
32674 75 R/C 107 rs374471511 0.1515 None gnomAD-4.0.0 2.10734E-05
32674 75 R/H 107 rs750969198 0.1515 None gnomAD-2.1.1 4.64E-05
32674 75 R/H 107 rs750969198 0.1515 None gnomAD-3.1.2 4.6E-05
32674 75 R/H 107 rs750969198 0.1515 None gnomAD-4.0.0 3.03713E-05
32675 76 V/I 108 rs576274929 0.0938 None gnomAD-2.1.1 5.63E-05
32675 76 V/I 108 rs576274929 0.0938 None gnomAD-3.1.2 3.94E-05
32675 76 V/I 108 rs576274929 0.0938 None 1000 genomes 1.99681E-04
32675 76 V/I 108 rs576274929 0.0938 None gnomAD-4.0.0 2.04529E-05
32675 76 V/L 108 None 0.0938 None gnomAD-4.0.0 6.84384E-07
32676 77 L/I 109 None 0.1481 None gnomAD-4.0.0 1.36894E-06
32678 79 C/G 111 rs368160975 0.0940 None gnomAD-2.1.1 4.03E-06
32678 79 C/S 111 None 0.0940 None gnomAD-4.0.0 1.20032E-06
32680 81 A/T 113 rs1340922711 0.7195 None gnomAD-2.1.1 4.03E-06
32680 81 A/T 113 rs1340922711 0.7195 None gnomAD-4.0.0 3.19049E-06
32681 82 G/D 114 None 0.4870 None gnomAD-4.0.0 1.20032E-06
32682 83 G/R 115 None 0.2381 None gnomAD-4.0.0 1.59657E-06
32683 84 P/L 117 rs1693711060 0.6383 None gnomAD-4.0.0 6.85353E-07
32683 84 P/R 117 rs1693711060 0.6383 None gnomAD-3.1.2 6.57E-06
32683 84 P/R 117 rs1693711060 0.6383 None gnomAD-4.0.0 1.24124E-06
32684 85 G/A 118 rs774041992 0.1830 None gnomAD-2.1.1 4.04E-06
32684 85 G/A 118 rs774041992 0.1830 None gnomAD-3.1.2 6.57E-06
32684 85 G/A 118 rs774041992 0.1830 None gnomAD-4.0.0 2.6698E-05
32684 85 G/D 118 rs774041992 0.1830 None gnomAD-2.1.1 4.04E-06
32684 85 G/D 118 rs774041992 0.1830 None gnomAD-3.1.2 1.31E-05
32684 85 G/D 118 rs774041992 0.1830 None gnomAD-4.0.0 3.7253E-06
32684 85 G/S 118 None 0.1830 None gnomAD-4.0.0 1.57701E-05
32685 86 E/G 119 rs762387276 0.6885 None gnomAD-2.1.1 2.43E-05
32685 86 E/G 119 rs762387276 0.6885 None gnomAD-3.1.2 1.97E-05
32685 86 E/G 119 rs762387276 0.6885 None gnomAD-4.0.0 1.67248E-05
32685 86 E/K 119 None 0.6885 None gnomAD-4.0.0 1.20032E-06
32686 87 P/A 120 None 0.4013 None gnomAD-4.0.0 6.86024E-07
32686 87 P/S 120 None 0.4013 None gnomAD-4.0.0 6.86024E-07
32686 87 P/T 120 None 0.4013 None gnomAD-4.0.0 1.37205E-06
32687 88 A/S 121 rs2154140466 0.1373 None gnomAD-4.0.0 1.60337E-06
32687 88 A/V 121 None 0.1373 None gnomAD-4.0.0 2.05903E-06
32689 90 V/I 123 None 0.1810 None gnomAD-4.0.0 3.21222E-06
32690 91 P/L 124 rs1457945906 0.7443 None gnomAD-2.1.1 4.07E-06
32690 91 P/S 124 rs1161513687 0.7443 None gnomAD-2.1.1 4.07E-06
32690 91 P/S 124 rs1161513687 0.7443 None gnomAD-4.0.0 1.60643E-06
32692 93 T/I 126 rs727505311 0.6057 None gnomAD-4.0.0 6.87862E-07
32692 93 T/R 126 rs727505311 0.6057 None gnomAD-2.1.1 3.27E-05
32692 93 T/R 126 rs727505311 0.6057 None gnomAD-4.0.0 1.92601E-05
32696 97 T/I 131 None 0.3584 None gnomAD-4.0.0 1.62592E-06
32697 98 E/D 132 rs748057839 0.6486 None gnomAD-2.1.1 2.95E-05
32697 98 E/D 132 rs748057839 0.6486 None gnomAD-3.1.2 6.57E-06
32697 98 E/D 132 rs748057839 0.6486 None gnomAD-4.0.0 6.25188E-06