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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22644 2 P/R 2 rs1366675225 0.1474 None gnomAD-4.0.0 1.59213E-06
22644 2 P/S 2 None 0.1474 None gnomAD-4.0.0 7.96079E-06
22646 4 I/V 4 rs1348616703 0.3869 None gnomAD-4.0.0 1.59215E-06
22647 5 P/A 5 None 0.1061 None gnomAD-4.0.0 1.36876E-06
22647 5 P/L 5 None 0.1061 None gnomAD-4.0.0 1.20032E-06
22647 5 P/S 5 rs1451467519 0.1061 None gnomAD-2.1.1 4.03E-06
22647 5 P/S 5 rs1451467519 0.1061 None gnomAD-4.0.0 1.50564E-05
22648 6 T/N 6 None 0.3769 None gnomAD-4.0.0 1.71096E-05
22649 7 G/R 7 rs774620164 0.4914 None gnomAD-2.1.1 4.03E-06
22649 7 G/R 7 rs774620164 0.4914 None gnomAD-4.0.0 1.5922E-06
22650 8 P/S 8 None 0.7668 None gnomAD-4.0.0 2.05315E-06
22651 9 I/V 9 rs544473873 0.1351 None gnomAD-2.1.1 7.15E-06
22651 9 I/V 9 rs544473873 0.1351 None gnomAD-3.1.2 6.58E-06
22651 9 I/V 9 rs544473873 0.1351 None 1000 genomes 1.99681E-04
22651 9 I/V 9 rs544473873 0.1351 None gnomAD-4.0.0 5.07482E-06
22653 11 F/C 12 rs749873981 0.3004 None gnomAD-3.1.2 6.58E-06
22653 11 F/C 12 rs749873981 0.3004 None gnomAD-4.0.0 6.5799E-06
22653 11 F/L 12 rs72646877 0.3004 None gnomAD-2.1.1 8.06E-06
22653 11 F/L 12 rs72646877 0.3004 None gnomAD-3.1.2 1.97E-05
22653 11 F/L 12 rs72646877 0.3004 None gnomAD-4.0.0 9.29831E-06
22653 11 F/Y 12 rs749873981 0.3004 None gnomAD-2.1.1 8.06E-06
22653 11 F/Y 12 rs749873981 0.3004 None gnomAD-3.1.2 6.58E-06
22653 11 F/Y 12 rs749873981 0.3004 None gnomAD-4.0.0 1.4878E-05
22654 12 D/H 13 rs144295295 0.4811 None gnomAD-2.1.1 2.82E-05
22654 12 D/H 13 rs144295295 0.4811 None gnomAD-3.1.2 3.29E-05
22654 12 D/H 13 rs144295295 0.4811 None 1000 genomes 3.99361E-04
22654 12 D/H 13 rs144295295 0.4811 None gnomAD-4.0.0 1.2689E-04
22656 14 V/D 15 rs758038684 0.2369 None gnomAD-2.1.1 4.03E-06
22656 14 V/D 15 rs758038684 0.2369 None gnomAD-4.0.0 1.09505E-05
22657 15 T/I 16 None 0.1992 None gnomAD-4.0.0 2.05324E-06
22658 16 A/T 17 None 0.1273 None gnomAD-4.0.0 1.20032E-06
22659 17 E/D 18 rs1440927665 0.7482 None gnomAD-2.1.1 3.19E-05
22659 17 E/D 18 rs1440927665 0.7482 None gnomAD-3.1.2 1.32E-05
22659 17 E/D 18 rs1440927665 0.7482 None gnomAD-4.0.0 1.31527E-05
22659 17 E/K 18 rs778462661 0.7482 None gnomAD-4.0.0 1.59244E-06
22659 17 E/Q 18 None 0.7482 None gnomAD-4.0.0 1.59244E-06
22660 18 A/T 19 None 0.1300 None gnomAD-4.0.0 1.59239E-06
22661 19 M/K 20 None 0.0824 None gnomAD-4.0.0 1.36884E-06
22661 19 M/L 20 rs1201216819 0.0824 None gnomAD-2.1.1 4.03E-06
22661 19 M/L 20 rs1201216819 0.0824 None gnomAD-4.0.0 1.36885E-06
22661 19 M/T 20 rs929252811 0.0824 None gnomAD-4.0.0 1.16351E-05
22662 20 T/P 21 rs1484148632 0.1376 None gnomAD-3.1.2 6.58E-06
22662 20 T/P 21 rs1484148632 0.1376 None gnomAD-4.0.0 6.57566E-06
22663 21 L/F 22 rs1485610846 0.1000 None gnomAD-2.1.1 4.03E-06
22663 21 L/F 22 rs1485610846 0.1000 None gnomAD-3.1.2 1.32E-05
22663 21 L/F 22 rs1485610846 0.1000 None gnomAD-4.0.0 5.12785E-06
22667 25 P/H 26 None 0.4523 None gnomAD-4.0.0 2.40064E-06
22668 26 P/Q 27 rs879160608 0.1685 None gnomAD-2.1.1 4.03E-06
22668 26 P/Q 27 rs879160608 0.1685 None gnomAD-4.0.0 1.36887E-06
22669 27 K/N 28 rs755897447 0.9816 None gnomAD-2.1.1 4.03E-06
22669 27 K/N 28 rs755897447 0.9816 None gnomAD-4.0.0 2.73776E-06
22670 28 D/G 29 rs377188703 0.6235 None gnomAD-2.1.1 4.03E-06
22670 28 D/G 29 rs377188703 0.6235 None gnomAD-3.1.2 6.58E-06
22670 28 D/G 29 rs377188703 0.6235 None gnomAD-4.0.0 6.57687E-06
22672 30 G/E 31 None 0.2819 None gnomAD-4.0.0 1.59249E-06
22673 31 G/S 32 rs371738759 0.5832 None gnomAD-2.1.1 4.03E-06
22673 31 G/S 32 rs371738759 0.5832 None gnomAD-3.1.2 6.58E-06
22673 31 G/S 32 rs371738759 0.5832 None gnomAD-4.0.0 6.57791E-06
22673 31 G/V 32 None 0.5832 None gnomAD-4.0.0 2.05332E-06
22674 32 S/T 33 rs367642533 0.1706 None gnomAD-2.1.1 8.06E-06
22674 32 S/T 33 rs367642533 0.1706 None gnomAD-3.1.2 1.32E-05
22674 32 S/T 33 rs367642533 0.1706 None gnomAD-4.0.0 3.84615E-06
22676 34 I/N 35 None 0.2057 None gnomAD-4.0.0 1.59246E-06
22679 37 Y/C 38 None 0.1120 None gnomAD-4.0.0 6.84424E-07
22679 37 Y/F 38 rs773819237 0.1120 None gnomAD-2.1.1 4.03E-06
22679 37 Y/F 38 rs773819237 0.1120 None gnomAD-4.0.0 6.84424E-07
22679 37 Y/H 38 rs763134196 0.1120 None gnomAD-2.1.1 4.03E-06
22679 37 Y/H 38 rs763134196 0.1120 None gnomAD-4.0.0 6.36965E-06
22680 38 I/V 39 rs2047081952 0.2230 None gnomAD-4.0.0 1.59238E-06
22683 41 K/E 42 None 0.2022 None gnomAD-4.0.0 2.73766E-06
22685 43 D/N 44 rs866478447 0.2224 None gnomAD-3.1.2 6.58E-06
22685 43 D/N 44 rs866478447 0.2224 None gnomAD-4.0.0 6.57999E-06
22686 44 S/T 50 None 0.4555 None gnomAD-4.0.0 1.59237E-06
22688 46 N/I 60 rs748527420 0.6139 None gnomAD-2.1.1 8.05E-06
22688 46 N/I 60 rs748527420 0.6139 None gnomAD-4.0.0 6.36947E-06
22688 46 N/K 60 None 0.6139 None gnomAD-4.0.0 1.59238E-06
22689 47 N/D 63 rs786205382 0.6572 None gnomAD-4.0.0 2.40064E-06
22689 47 N/I 63 None 0.6572 None gnomAD-4.0.0 6.84412E-07
22689 47 N/S 63 rs375397094 0.6572 None gnomAD-4.0.0 2.05324E-06
22691 49 W/R 65 rs565422738 0.3379 None gnomAD-2.1.1 4.02E-06
22691 49 W/R 65 rs565422738 0.3379 None gnomAD-3.1.2 6.58E-06
22691 49 W/R 65 rs565422738 0.3379 None 1000 genomes 1.99681E-04
22691 49 W/R 65 rs565422738 0.3379 None gnomAD-4.0.0 1.59237E-06
22692 50 V/L 66 rs545399178 0.5192 None gnomAD-2.1.1 1.61E-05
22692 50 V/L 66 rs545399178 0.5192 None gnomAD-3.1.2 1.97E-05
22692 50 V/L 66 rs545399178 0.5192 None gnomAD-4.0.0 4.95922E-06
22692 50 V/M 66 rs545399178 0.5192 None gnomAD-2.1.1 4.02E-06
22692 50 V/M 66 rs545399178 0.5192 None gnomAD-3.1.2 1.32E-05
22692 50 V/M 66 rs545399178 0.5192 None 1000 genomes 1.99681E-04
22692 50 V/M 66 rs545399178 0.5192 None gnomAD-4.0.0 1.85957E-06
22693 51 T/A 67 rs1261128653 0.4442 None gnomAD-4.0.0 1.59234E-06
22693 51 T/K 67 None 0.4442 None gnomAD-4.0.0 6.84409E-07
22693 51 T/M 67 rs758700425 0.4442 None gnomAD-2.1.1 1.07E-05
22693 51 T/M 67 rs758700425 0.4442 None gnomAD-3.1.2 6.58E-06
22693 51 T/M 67 rs758700425 0.4442 None gnomAD-4.0.0 7.43924E-06
22693 51 T/S 67 rs1261128653 0.4442 None gnomAD-2.1.1 4.02E-06
22693 51 T/S 67 rs1261128653 0.4442 None gnomAD-4.0.0 1.59234E-06
22694 52 C/Y 68 rs756052769 0.2652 None gnomAD-2.1.1 8.05E-06
22694 52 C/Y 68 rs756052769 0.2652 None gnomAD-4.0.0 4.10642E-06
22695 53 A/T 69 rs767279296 0.1746 None gnomAD-2.1.1 2.41E-05
22695 53 A/T 69 rs767279296 0.1746 None gnomAD-3.1.2 6.58E-06
22695 53 A/T 69 rs767279296 0.1746 None gnomAD-4.0.0 4.40141E-05
22696 54 S/L 70 rs1245154926 0.5077 None gnomAD-2.1.1 4.02E-06
22696 54 S/L 70 rs1245154926 0.5077 None gnomAD-4.0.0 1.59226E-06
22696 54 S/P 70 rs754821175 0.5077 None gnomAD-2.1.1 8.05E-06
22696 54 S/P 70 rs754821175 0.5077 None gnomAD-3.1.2 6.58E-06
22696 54 S/P 70 rs754821175 0.5077 None gnomAD-4.0.0 2.56398E-06
22697 55 A/P 75 None 0.6078 None gnomAD-4.0.0 2.40064E-06
22697 55 A/V 75 None 0.6078 None gnomAD-4.0.0 1.20032E-06
22698 56 V/F 77 rs1022194199 0.1184 None gnomAD-2.1.1 4.02E-06
22698 56 V/F 77 rs1022194199 0.1184 None gnomAD-3.1.2 6.58E-06
22698 56 V/F 77 rs1022194199 0.1184 None gnomAD-4.0.0 2.56394E-06
22698 56 V/I 77 rs1022194199 0.1184 None gnomAD-3.1.2 6.58E-06
22698 56 V/I 77 rs1022194199 0.1184 None gnomAD-4.0.0 6.57774E-06
22699 57 Q/H 83 rs727504520 0.8599 None gnomAD-2.1.1 5.72E-05
22699 57 Q/H 83 rs727504520 0.8599 None gnomAD-3.1.2 7.9E-05
22699 57 Q/H 83 rs727504520 0.8599 None gnomAD-4.0.0 1.41962E-04
22699 57 Q/P 83 None 0.8599 None gnomAD-4.0.0 1.20032E-06
22700 58 K/E 88 rs1401253287 0.8048 None gnomAD-2.1.1 7.15E-06
22700 58 K/E 88 rs1401253287 0.8048 None gnomAD-3.1.2 1.32E-05
22700 58 K/E 88 rs1401253287 0.8048 None gnomAD-4.0.0 4.33928E-06
22701 59 T/A 89 rs536702948 0.1623 None gnomAD-2.1.1 4.02E-06
22701 59 T/A 89 rs536702948 0.1623 None gnomAD-3.1.2 6.58E-06
22701 59 T/A 89 rs536702948 0.1623 None 1000 genomes 1.99681E-04
22701 59 T/A 89 rs536702948 0.1623 None gnomAD-4.0.0 9.91816E-06
22702 60 T/A 90 None 0.3348 None gnomAD-4.0.0 1.59221E-06
22702 60 T/I 90 rs1404079334 0.3348 None gnomAD-2.1.1 4.02E-06
22702 60 T/I 90 rs1404079334 0.3348 None gnomAD-4.0.0 1.59223E-06
22702 60 T/P 90 rs574172442 0.3348 None gnomAD-2.1.1 1.61E-05
22702 60 T/P 90 rs574172442 0.3348 None gnomAD-3.1.2 6.58E-06
22702 60 T/P 90 rs574172442 0.3348 None 1000 genomes 1.99681E-04
22702 60 T/P 90 rs574172442 0.3348 None gnomAD-4.0.0 1.02542E-05
22703 61 F/C 91 rs2047065698 0.2459 None gnomAD-3.1.2 6.58E-06
22703 61 F/C 91 rs2047065698 0.2459 None gnomAD-4.0.0 6.58068E-06
22704 62 R/G 92 rs1393414222 0.3372 None gnomAD-2.1.1 4.02E-06
22704 62 R/G 92 rs1393414222 0.3372 None gnomAD-4.0.0 1.59222E-06
22704 62 R/K 92 rs773477768 0.3372 None gnomAD-2.1.1 4.02E-06
22704 62 R/K 92 rs773477768 0.3372 None gnomAD-4.0.0 1.59222E-06
22705 63 V/I 93 rs1461683344 0.1407 None gnomAD-2.1.1 4.02E-06
22705 63 V/I 93 rs1461683344 0.1407 None gnomAD-4.0.0 6.36898E-06
22706 64 T/I 94 rs765762900 0.4640 None gnomAD-2.1.1 4.02E-06
22706 64 T/I 94 rs765762900 0.4640 None gnomAD-3.1.2 6.58E-06
22706 64 T/I 94 rs765762900 0.4640 None gnomAD-4.0.0 2.564E-06
22708 66 L/F 97 rs1195974219 0.1032 None gnomAD-2.1.1 4.02E-06
22708 66 L/F 97 rs1195974219 0.1032 None gnomAD-4.0.0 1.59225E-06
22708 66 L/P 97 rs374300374 0.1032 None gnomAD-2.1.1 4.02E-06
22708 66 L/P 97 rs374300374 0.1032 None gnomAD-4.0.0 1.59225E-06
22709 67 H/Q 98 None 0.7042 None gnomAD-4.0.0 1.59223E-06
22711 69 G/A 100 None 0.3899 None gnomAD-4.0.0 1.20032E-06
22711 69 G/S 100 None 0.3899 None gnomAD-4.0.0 1.20032E-06
22712 70 M/I 102 rs777200566 0.3436 None gnomAD-2.1.1 1.21E-05
22712 70 M/I 102 rs777200566 0.3436 None gnomAD-3.1.2 1.97E-05
22712 70 M/I 102 rs777200566 0.3436 None gnomAD-4.0.0 4.33923E-06
22712 70 M/V 102 rs1223811231 0.3436 None gnomAD-3.1.2 6.58E-06
22712 70 M/V 102 rs1223811231 0.3436 None gnomAD-4.0.0 4.06011E-06
22713 71 E/D 103 rs768845661 0.3768 None gnomAD-2.1.1 4.02E-06
22713 71 E/D 103 rs768845661 0.3768 None gnomAD-4.0.0 1.5923E-06
22713 71 E/K 103 rs895744220 0.3768 None gnomAD-4.0.0 2.73762E-06
22713 71 E/Q 103 rs895744220 0.3768 None gnomAD-2.1.1 3.19E-05
22713 71 E/Q 103 rs895744220 0.3768 None gnomAD-3.1.2 6.58E-06
22713 71 E/Q 103 rs895744220 0.3768 None gnomAD-4.0.0 1.85966E-06
22716 74 F/S 106 rs1189895762 0.1071 None gnomAD-3.1.2 6.58E-06
22716 74 F/S 106 rs1189895762 0.1071 None gnomAD-4.0.0 6.5773E-06
22718 76 V/F 108 None 0.0853 None gnomAD-4.0.0 6.84412E-07
22718 76 V/I 108 None 0.0853 None gnomAD-4.0.0 3.42206E-06
22719 77 S/G 109 rs2047057436 0.1341 None gnomAD-3.1.2 6.57E-06
22719 77 S/G 109 rs2047057436 0.1341 None gnomAD-4.0.0 3.04496E-06
22719 77 S/N 109 rs1291771757 0.1341 None gnomAD-2.1.1 8.05E-06
22719 77 S/N 109 rs1291771757 0.1341 None gnomAD-4.0.0 3.18495E-06
22719 77 S/R 109 None 0.1341 None gnomAD-4.0.0 1.59247E-06
22721 79 E/K 111 rs374492812 0.2190 None gnomAD-2.1.1 1.18E-04
22721 79 E/K 111 rs374492812 0.2190 None gnomAD-3.1.2 1.18393E-04
22721 79 E/K 111 rs374492812 0.2190 None 1000 genomes 1.99681E-04
22721 79 E/K 111 rs374492812 0.2190 None gnomAD-4.0.0 1.03525E-04
22722 80 N/S 112 rs200493270 0.1012 None gnomAD-2.1.1 8.58E-05
22722 80 N/S 112 rs200493270 0.1012 None gnomAD-3.1.2 9.21E-05
22722 80 N/S 112 rs200493270 0.1012 None gnomAD-4.0.0 1.17777E-04
22723 81 K/R 113 rs2154175020 0.4376 None gnomAD-4.0.0 4.77791E-06
22724 82 Y/C 114 rs1387896930 0.6063 None gnomAD-4.0.0 1.20032E-06
22724 82 Y/H 114 rs756070724 0.6063 None gnomAD-2.1.1 1.61E-05
22724 82 Y/H 114 rs756070724 0.6063 None gnomAD-4.0.0 4.10686E-06
22725 83 G/A 115 rs937009971 0.1757 None gnomAD-3.1.2 6.58E-06
22725 83 G/A 115 rs937009971 0.1757 None gnomAD-4.0.0 6.57505E-06
22725 83 G/R 115 rs1261912310 0.1757 None gnomAD-2.1.1 3.19E-05
22726 84 V/I 117 rs1553620392 0.3619 None gnomAD-4.0.0 1.59279E-06
22727 85 G/V 118 rs2047052144 0.2026 None gnomAD-3.1.2 6.58E-06
22727 85 G/V 118 rs2047052144 0.2026 None gnomAD-4.0.0 6.57756E-06
22730 88 L/M 121 rs1273726879 0.1531 None gnomAD-2.1.1 4.04E-06
22730 88 L/M 121 rs1273726879 0.1531 None gnomAD-4.0.0 1.59554E-06
22732 90 S/L 123 rs727505352 0.1489 None gnomAD-2.1.1 1.49507E-04
22732 90 S/L 123 rs727505352 0.1489 None gnomAD-3.1.2 1.32E-05
22732 90 S/L 123 rs727505352 0.1489 None gnomAD-4.0.0 3.59926E-05
22733 91 E/A 124 rs754767867 0.6543 None gnomAD-2.1.1 1.79E-05
22733 91 E/A 124 rs754767867 0.6543 None gnomAD-3.1.2 6.58E-06
22733 91 E/A 124 rs754767867 0.6543 None gnomAD-4.0.0 1.24118E-05
22733 91 E/G 124 rs754767867 0.6543 None gnomAD-2.1.1 4.04E-06
22733 91 E/G 124 rs754767867 0.6543 None gnomAD-4.0.0 6.85239E-07
22733 91 E/Q 124 None 0.6543 None gnomAD-4.0.0 1.20032E-06
22735 93 I/F 127 rs2154174995 0.1526 None gnomAD-3.1.2 6.58E-06
22735 93 I/F 127 rs2154174995 0.1526 None gnomAD-4.0.0 6.57099E-06
22736 94 V/A 128 rs1398519394 0.3189 None gnomAD-2.1.1 4.04E-06
22736 94 V/A 128 rs1398519394 0.3189 None gnomAD-4.0.0 1.59809E-06
22736 94 V/G 128 rs1398519394 0.3189 None gnomAD-3.1.2 6.58E-06
22736 94 V/G 128 rs1398519394 0.3189 None gnomAD-4.0.0 6.57774E-06
22737 95 A/E 130 rs372975579 0.0813 None gnomAD-2.1.1 1.21E-05
22737 95 A/E 130 rs372975579 0.0813 None gnomAD-4.0.0 6.1723E-06
22737 95 A/G 130 None 0.0813 None gnomAD-4.0.0 1.37162E-06
22737 95 A/P 130 None 0.0813 None gnomAD-4.0.0 1.59836E-06
22737 95 A/T 130 None 0.0813 None gnomAD-4.0.0 1.59836E-06
22737 95 A/V 130 rs372975579 0.0813 None gnomAD-2.1.1 1.21E-05
22737 95 A/V 130 rs372975579 0.0813 None gnomAD-3.1.2 1.97E-05
22737 95 A/V 130 rs372975579 0.0813 None gnomAD-4.0.0 2.36018E-05
22739 97 H/R 132 rs1170829810 0.2169 None gnomAD-2.1.1 4.05E-06
22739 97 H/R 132 rs1170829810 0.2169 None gnomAD-4.0.0 1.6001E-06
22739 97 H/Y 132 rs993803663 0.2169 None gnomAD-3.1.2 2.63E-05
22739 97 H/Y 132 rs993803663 0.2169 None gnomAD-4.0.0 8.07374E-06