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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26683 1 T/A 1 rs1447655466 0.4348 None gnomAD-2.1.1 4.02E-06
26683 1 T/A 1 rs1447655466 0.4348 None gnomAD-4.0.0 5.47412E-06
26683 1 T/P 1 None 0.4348 None gnomAD-4.0.0 6.84265E-07
26684 2 P/A 2 rs1705731534 0.1115 None gnomAD-4.0.0 2.05278E-06
26685 3 G/E 3 rs773930240 0.1838 None gnomAD-2.1.1 4.02E-06
26685 3 G/E 3 rs773930240 0.1838 None gnomAD-4.0.0 1.20032E-06
26686 4 P/L 4 rs867306848 0.3407 None gnomAD-2.1.1 4.02E-06
26686 4 P/L 4 rs867306848 0.3407 None gnomAD-3.1.2 6.58E-06
26686 4 P/L 4 rs867306848 0.3407 None gnomAD-4.0.0 6.57549E-06
26687 5 P/Q 5 None 0.0967 None gnomAD-4.0.0 1.36855E-06
26687 5 P/S 5 None 0.0967 None gnomAD-4.0.0 1.20032E-06
26689 7 N/D 7 rs1289700659 0.5985 None gnomAD-2.1.1 3.18E-05
26689 7 N/D 7 rs1289700659 0.5985 None gnomAD-3.1.2 6.57E-06
26689 7 N/D 7 rs1289700659 0.5985 None gnomAD-4.0.0 6.57237E-06
26691 9 A/T 11 None 0.3223 None gnomAD-4.0.0 1.20032E-06
26693 11 K/E 13 None 0.6105 None gnomAD-4.0.0 1.59171E-06
26693 11 K/R 13 rs544750835 0.6105 None gnomAD-2.1.1 4.02E-06
26693 11 K/R 13 rs544750835 0.6105 None gnomAD-3.1.2 6.57E-06
26693 11 K/R 13 rs544750835 0.6105 None 1000 genomes 1.99681E-04
26693 11 K/R 13 rs544750835 0.6105 None gnomAD-4.0.0 6.5678E-06
26695 13 V/L 15 rs772729384 0.2698 None gnomAD-2.1.1 2.82E-05
26695 13 V/L 15 rs772729384 0.2698 None gnomAD-3.1.2 3.94E-05
26695 13 V/L 15 rs772729384 0.2698 None gnomAD-4.0.0 1.9833E-05
26696 14 R/K 16 rs769866606 0.6051 None gnomAD-2.1.1 4.03E-06
26696 14 R/K 16 rs769866606 0.6051 None gnomAD-4.0.0 1.36865E-06
26696 14 R/S 16 None 0.6051 None gnomAD-4.0.0 1.59188E-06
26698 16 D/V 18 rs368085497 0.4591 None gnomAD-2.1.1 8.05E-06
26698 16 D/V 18 rs368085497 0.4591 None gnomAD-4.0.0 1.36866E-05
26699 17 S/P 19 rs1444605407 0.1373 None gnomAD-2.1.1 4.03E-06
26699 17 S/P 19 rs1444605407 0.1373 None gnomAD-4.0.0 3.1838E-06
26701 19 F/L 21 rs575784937 0.2805 None gnomAD-2.1.1 3.22E-05
26701 19 F/L 21 rs575784937 0.2805 None gnomAD-3.1.2 6.57E-06
26701 19 F/L 21 rs575784937 0.2805 None 1000 genomes 1.99681E-04
26701 19 F/L 21 rs575784937 0.2805 None gnomAD-4.0.0 1.40948E-05
26701 19 F/S 21 rs954218807 0.2805 None gnomAD-3.1.2 6.57E-06
26701 19 F/S 21 rs954218807 0.2805 None gnomAD-4.0.0 6.57324E-06
26702 20 L/V 22 rs746800300 0.0926 None gnomAD-2.1.1 4.03E-06
26702 20 L/V 22 rs746800300 0.0926 None gnomAD-4.0.0 3.18377E-06
26703 21 V/L 23 rs1288435749 0.2492 None gnomAD-2.1.1 4.03E-06
26703 21 V/L 23 rs1288435749 0.2492 None gnomAD-4.0.0 4.77584E-06
26704 22 W/L 24 rs780184497 0.0902 None gnomAD-2.1.1 4.03E-06
26704 22 W/L 24 rs780184497 0.0902 None gnomAD-4.0.0 1.59186E-06
26705 23 E/D 25 rs558830502 0.3758 None gnomAD-2.1.1 4.29102E-04
26705 23 E/D 25 rs558830502 0.3758 None gnomAD-3.1.2 1.77529E-04
26705 23 E/D 25 rs558830502 0.3758 None 1000 genomes 5.99042E-04
26705 23 E/D 25 rs558830502 0.3758 None gnomAD-4.0.0 1.3263E-04
26705 23 E/K 25 rs758610676 0.3758 None gnomAD-2.1.1 4.03E-06
26705 23 E/K 25 rs758610676 0.3758 None gnomAD-4.0.0 2.7373E-06
26707 25 P/L 27 None 0.1511 None gnomAD-4.0.0 1.59183E-06
26707 25 P/T 27 None 0.1511 None gnomAD-4.0.0 1.59184E-06
26708 26 I/M 28 rs886043518 0.8573 None gnomAD-2.1.1 4.03E-06
26708 26 I/M 28 rs886043518 0.8573 None gnomAD-4.0.0 3.18369E-06
26709 27 I/T 29 rs757763969 0.7819 None gnomAD-2.1.1 4.03E-06
26709 27 I/T 29 rs757763969 0.7819 None gnomAD-4.0.0 1.5055E-05
26710 28 D/G 30 None 0.3392 None gnomAD-4.0.0 1.5918E-06
26711 29 G/R 31 rs2154165266 0.2812 None gnomAD-4.0.0 3.60097E-06
26714 32 K/N 34 None 0.8811 None gnomAD-4.0.0 1.20033E-06
26715 33 V/F 35 rs1705694653 0.1991 None gnomAD-3.1.2 6.58E-06
26715 33 V/F 35 rs1705694653 0.1991 None gnomAD-4.0.0 2.56306E-06
26716 34 K/E 36 rs902372912 0.4219 None gnomAD-4.0.0 9.57999E-06
26717 35 N/S 37 rs538799672 0.2804 None gnomAD-3.1.2 6.57E-06
26717 35 N/S 37 rs538799672 0.2804 None 1000 genomes 1.99681E-04
26717 35 N/S 37 rs538799672 0.2804 None gnomAD-4.0.0 2.56246E-06
26718 36 Y/C 38 rs1705690461 0.0972 None gnomAD-3.1.2 6.57E-06
26718 36 Y/C 38 rs1705690461 0.0972 None gnomAD-4.0.0 6.57281E-06
26719 37 V/A 39 None 0.1559 None gnomAD-4.0.0 5.47426E-06
26720 38 I/M 40 rs376363284 0.0639 None gnomAD-2.1.1 4.29E-05
26720 38 I/M 40 rs376363284 0.0639 None gnomAD-3.1.2 1.11779E-04
26720 38 I/M 40 rs376363284 0.0639 None gnomAD-4.0.0 9.11071E-05
26720 38 I/T 40 rs879183549 0.0639 None gnomAD-4.0.0 1.59164E-06
26721 39 D/E 41 None 0.1119 None gnomAD-4.0.0 6.84275E-07
26722 40 K/Q 42 None 0.2215 None gnomAD-4.0.0 1.20033E-06
26723 41 R/C 43 rs1412497882 0.1542 None gnomAD-2.1.1 8.05E-06
26723 41 R/C 43 rs1412497882 0.1542 None gnomAD-3.1.2 6.58E-06
26723 41 R/C 43 rs1412497882 0.1542 None gnomAD-4.0.0 1.36352E-05
26723 41 R/H 43 rs371615296 0.1542 None gnomAD-2.1.1 2.14E-05
26723 41 R/H 43 rs371615296 0.1542 None gnomAD-3.1.2 3.94E-05
26723 41 R/H 43 rs371615296 0.1542 None gnomAD-4.0.0 1.6114E-05
26723 41 R/L 43 None 0.1542 None gnomAD-4.0.0 6.84275E-07
26724 42 E/K 44 rs367812761 0.2173 None gnomAD-3.1.2 1.31E-05
26724 42 E/K 44 rs367812761 0.2173 None gnomAD-4.0.0 3.84409E-06
26725 43 S/L 50 rs772603198 0.3335 None gnomAD-2.1.1 4.03E-06
26725 43 S/L 50 rs772603198 0.3335 None gnomAD-4.0.0 1.59166E-06
26725 43 S/P 50 None 0.3335 None gnomAD-4.0.0 2.05284E-06
26726 44 T/A 54 rs1258866379 0.7657 None gnomAD-2.1.1 4.03E-06
26726 44 T/A 54 rs1258866379 0.7657 None gnomAD-4.0.0 1.36856E-06
26726 44 T/I 54 None 0.7657 None gnomAD-4.0.0 1.20032E-06
26726 44 T/P 54 None 0.7657 None gnomAD-4.0.0 6.84279E-07
26727 45 R/S 60 rs769497982 0.5126 None gnomAD-2.1.1 3.57E-05
26727 45 R/S 60 rs769497982 0.5126 None gnomAD-3.1.2 2.63E-05
26727 45 R/S 60 rs769497982 0.5126 None gnomAD-4.0.0 3.58777E-05
26728 46 K/E 63 None 1.0530 None gnomAD-4.0.0 1.5916E-06
26729 47 A/P 64 rs1252013447 0.5521 None gnomAD-3.1.2 6.57E-06
26729 47 A/P 64 rs1252013447 0.5521 None gnomAD-4.0.0 1.85928E-06
26729 47 A/V 64 rs747650124 0.5521 None gnomAD-2.1.1 1.61E-05
26729 47 A/V 64 rs747650124 0.5521 None gnomAD-3.1.2 2.63E-05
26729 47 A/V 64 rs747650124 0.5521 None gnomAD-4.0.0 1.79742E-05
26730 48 Y/F 65 None 0.2010 None gnomAD-4.0.0 1.5916E-06
26730 48 Y/H 65 rs768686591 0.2010 None gnomAD-4.0.0 1.59161E-06
26731 49 A/D 66 rs1410996977 0.3597 None gnomAD-3.1.2 6.58E-06
26731 49 A/D 66 rs1410996977 0.3597 None gnomAD-4.0.0 6.57644E-06
26731 49 A/P 66 rs1451227084 0.3597 None gnomAD-2.1.1 4.02E-06
26731 49 A/T 66 None 0.3597 None gnomAD-4.0.0 1.59163E-06
26733 51 V/E 68 rs746813986 0.2495 None gnomAD-2.1.1 1.61E-05
26733 51 V/E 68 rs746813986 0.2495 None gnomAD-4.0.0 2.05283E-06
26733 51 V/M 68 rs755876442 0.2495 None gnomAD-2.1.1 4.02E-06
26733 51 V/M 68 rs755876442 0.2495 None gnomAD-4.0.0 1.5054E-05
26735 53 S/G 70 None 0.4176 None gnomAD-4.0.0 6.84271E-07
26737 55 C/S 77 rs566764105 0.0794 None gnomAD-2.1.1 2.5E-05
26737 55 C/S 77 rs566764105 0.0794 None gnomAD-3.1.2 1.97E-05
26737 55 C/S 77 rs566764105 0.0794 None 1000 genomes 1.99681E-04
26737 55 C/S 77 rs566764105 0.0794 None gnomAD-4.0.0 1.73524E-05
26741 59 S/G 90 rs750048032 0.2174 None gnomAD-2.1.1 8.04E-06
26741 59 S/G 90 rs750048032 0.2174 None gnomAD-3.1.2 6.57E-06
26741 59 S/G 90 rs750048032 0.2174 None gnomAD-4.0.0 1.54935E-05
26741 59 S/N 90 None 0.2174 None gnomAD-4.0.0 1.20033E-06
26743 61 K/T 92 rs368263400 0.3363 None gnomAD-2.1.1 8.04E-05
26743 61 K/T 92 rs368263400 0.3363 None gnomAD-3.1.2 1.97E-05
26743 61 K/T 92 rs368263400 0.3363 None gnomAD-4.0.0 2.7269E-05
26744 62 V/A 93 None 0.1136 None gnomAD-4.0.0 1.20032E-06
26745 63 E/Q 94 None 0.5113 None gnomAD-4.0.0 6.36649E-06
26746 64 N/H 96 None 0.9027 None gnomAD-4.0.0 3.60097E-06
26746 64 N/K 96 rs1299776307 0.9027 None gnomAD-4.0.0 1.59162E-06
26747 65 L/I 97 rs779100100 0.1206 None gnomAD-2.1.1 4.02E-06
26747 65 L/I 97 rs779100100 0.1206 None gnomAD-4.0.0 3.18327E-06
26748 66 T/A 98 None 0.5459 None gnomAD-4.0.0 1.59159E-06
26748 66 T/R 98 None 0.5459 None gnomAD-4.0.0 1.59161E-06
26749 67 E/K 99 None 0.6310 None gnomAD-4.0.0 1.36854E-06
26751 69 A/D 102 rs912122514 0.1462 None gnomAD-2.1.1 4.02E-06
26751 69 A/D 102 rs912122514 0.1462 None gnomAD-4.0.0 2.05281E-06
26751 69 A/T 102 rs1559345993 0.1462 None gnomAD-4.0.0 1.59158E-06
26751 69 A/V 102 rs912122514 0.1462 None gnomAD-2.1.1 8.04E-06
26751 69 A/V 102 rs912122514 0.1462 None gnomAD-4.0.0 6.84271E-07
26752 70 I/V 103 rs376046847 0.3760 None gnomAD-3.1.2 1.31E-05
26752 70 I/V 103 rs376046847 0.3760 None gnomAD-4.0.0 3.04501E-06
26753 71 Y/S 104 rs1321131877 0.0903 None gnomAD-2.1.1 4.02E-06
26753 71 Y/S 104 rs1321131877 0.0903 None gnomAD-4.0.0 6.36628E-06
26755 73 F/L 106 rs200181804 0.1230 None gnomAD-2.1.1 1.60642E-04
26755 73 F/L 106 rs200181804 0.1230 None gnomAD-3.1.2 2.95784E-04
26755 73 F/L 106 rs200181804 0.1230 None 1000 genomes 3.99361E-04
26755 73 F/L 106 rs200181804 0.1230 None gnomAD-4.0.0 2.9498E-04
26755 73 F/S 106 None 0.1230 None gnomAD-4.0.0 1.59159E-06
26756 74 R/T 107 rs1417881535 0.1879 None gnomAD-2.1.1 4.02E-06
26756 74 R/T 107 rs1417881535 0.1879 None gnomAD-4.0.0 3.18317E-06
26757 75 V/A 108 rs1705638495 0.0718 None gnomAD-4.0.0 1.20032E-06
26757 75 V/D 108 None 0.0718 None gnomAD-4.0.0 2.40064E-06
26757 75 V/L 108 rs1170675568 0.0718 None gnomAD-2.1.1 8.04E-06
26757 75 V/L 108 rs1170675568 0.0718 None gnomAD-4.0.0 2.73706E-06
26758 76 M/I 109 rs1705634558 0.0906 None gnomAD-4.0.0 1.59159E-06
26758 76 M/R 109 None 0.0906 None gnomAD-4.0.0 1.59158E-06
26758 76 M/T 109 None 0.0906 None gnomAD-4.0.0 7.95788E-06
26758 76 M/V 109 None 0.0906 None gnomAD-4.0.0 3.42133E-06
26760 78 E/D 111 rs778292712 0.2856 None gnomAD-2.1.1 1.61E-05
26760 78 E/D 111 rs778292712 0.2856 None gnomAD-4.0.0 5.47418E-06
26761 79 N/T 112 rs1187490566 0.0950 None gnomAD-2.1.1 4.02E-06
26761 79 N/T 112 rs1187490566 0.0950 None gnomAD-4.0.0 1.59161E-06
26762 80 E/K 113 None 0.4300 None gnomAD-4.0.0 1.59164E-06
26764 82 G/A 115 None 0.1946 None gnomAD-4.0.0 6.84271E-07
26764 82 G/R 115 rs727505213 0.1946 None gnomAD-2.1.1 8.04E-06
26764 82 G/R 115 rs727505213 0.1946 None gnomAD-3.1.2 6.57E-05
26764 82 G/R 115 rs727505213 0.1946 None gnomAD-4.0.0 1.61123E-05
26765 83 V/G 117 rs1469008305 0.4084 None gnomAD-2.1.1 4.02E-06
26765 83 V/G 117 rs1469008305 0.4084 None gnomAD-4.0.0 1.5916E-06
26766 84 G/A 118 rs753017013 0.1430 None gnomAD-2.1.1 1.21E-05
26766 84 G/A 118 rs753017013 0.1430 None gnomAD-4.0.0 6.84276E-07
26767 85 V/I 119 rs1559345492 0.4162 None gnomAD-2.1.1 3.19E-05
26767 85 V/I 119 rs1559345492 0.4162 None gnomAD-3.1.2 6.57E-06
26767 85 V/I 119 rs1559345492 0.4162 None gnomAD-4.0.0 1.8593E-06
26767 85 V/L 119 None 0.4162 None gnomAD-4.0.0 6.84277E-07
26769 87 V/A 121 None 0.1739 None gnomAD-4.0.0 1.36854E-06
26769 87 V/L 121 None 0.1739 None gnomAD-4.0.0 6.84273E-07
26769 87 V/M 121 rs745315690 0.1739 None gnomAD-3.1.2 6.57E-06
26769 87 V/M 121 rs745315690 0.1739 None gnomAD-4.0.0 1.2395E-06
26770 88 E/D 122 None 0.2423 None gnomAD-4.0.0 5.47416E-06
26771 89 T/A 123 None 0.1535 None gnomAD-4.0.0 1.20032E-06
26771 89 T/I 123 rs567184856 0.1535 None gnomAD-2.1.1 4.02E-06
26771 89 T/I 123 rs567184856 0.1535 None gnomAD-3.1.2 6.58E-06
26771 89 T/I 123 rs567184856 0.1535 None 1000 genomes 1.99681E-04
26771 89 T/I 123 rs567184856 0.1535 None gnomAD-4.0.0 2.56247E-06
26772 90 V/A 124 None 0.9049 None gnomAD-4.0.0 3.18318E-06
26772 90 V/I 124 rs750148761 0.9049 None gnomAD-2.1.1 8.05E-06
26772 90 V/I 124 rs750148761 0.9049 None gnomAD-4.0.0 6.15847E-06
26773 91 D/E 125 rs1036715959 0.7871 None gnomAD-4.0.0 6.84267E-07
26773 91 D/N 125 None 0.7871 None gnomAD-4.0.0 6.84268E-07
26773 91 D/Y 125 None 0.7871 None gnomAD-4.0.0 6.84268E-07
26774 92 A/V 126 rs1272733739 0.2777 None gnomAD-2.1.1 4.02E-06
26774 92 A/V 126 rs1272733739 0.2777 None gnomAD-4.0.0 6.36643E-06
26775 93 V/M 127 rs370589806 0.2065 None gnomAD-2.1.1 8.05E-06
26775 93 V/M 127 rs370589806 0.2065 None gnomAD-3.1.2 3.95E-05
26775 93 V/M 127 rs370589806 0.2065 None gnomAD-4.0.0 8.67686E-06
26777 95 A/G 130 None 0.0896 None gnomAD-4.0.0 1.20032E-06
26777 95 A/T 130 None 0.0896 None gnomAD-4.0.0 1.36854E-06
26777 95 A/V 130 rs1477186864 0.0896 None gnomAD-2.1.1 3.19E-05
26777 95 A/V 130 rs1477186864 0.0896 None gnomAD-3.1.2 6.58E-06
26777 95 A/V 130 rs1477186864 0.0896 None gnomAD-4.0.0 6.57505E-06
26778 96 A/D 131 rs1463558062 0.2856 None gnomAD-2.1.1 4.02E-06
26778 96 A/D 131 rs1463558062 0.2856 None gnomAD-4.0.0 4.10564E-06
26779 97 E/D 132 rs760599182 0.4394 None gnomAD-2.1.1 4.03E-06
26779 97 E/D 132 rs760599182 0.4394 None gnomAD-4.0.0 6.36647E-06