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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28651 1 L/P 1 None 0.5497 None gnomAD-4.0.0 1.36842E-06
28652 2 P/L 2 None 0.1148 None gnomAD-4.0.0 1.36844E-06
28653 3 S/C 3 None 0.1759 None gnomAD-4.0.0 1.59126E-06
28653 3 S/F 3 rs1703124893 0.1759 None gnomAD-3.1.2 6.57E-06
28653 3 S/F 3 rs1703124893 0.1759 None gnomAD-4.0.0 6.57436E-06
28654 4 P/L 4 None 0.2811 None gnomAD-4.0.0 3.18265E-06
28655 5 P/S 5 rs775991395 0.1179 None gnomAD-2.1.1 4.02E-06
28655 5 P/S 5 rs775991395 0.1179 None gnomAD-4.0.0 2.40064E-06
28656 6 S/F 6 rs1703122719 0.2554 None gnomAD-3.1.2 6.57E-06
28656 6 S/F 6 rs1703122719 0.2554 None gnomAD-4.0.0 6.57471E-06
28656 6 S/T 6 None 0.2554 None gnomAD-4.0.0 2.05273E-06
28657 7 K/T 7 rs1423891310 0.2561 None gnomAD-2.1.1 4.03E-06
28657 7 K/T 7 rs1423891310 0.2561 None gnomAD-4.0.0 1.0948E-05
28658 8 P/L 9 rs1703118451 0.1192 None gnomAD-3.1.2 6.58E-06
28658 8 P/L 9 rs1703118451 0.1192 None gnomAD-4.0.0 6.57808E-06
28658 8 P/S 9 rs772534573 0.1192 None gnomAD-2.1.1 1.61E-05
28658 8 P/S 9 rs772534573 0.1192 None gnomAD-4.0.0 1.43231E-05
28659 9 K/I 11 None 0.7636 None gnomAD-4.0.0 2.73707E-06
28659 9 K/R 11 rs200724395 0.7636 None gnomAD-4.0.0 6.1584E-06
28659 9 K/T 11 rs200724395 0.7636 None gnomAD-2.1.1 3.62E-05
28659 9 K/T 11 rs200724395 0.7636 None gnomAD-3.1.2 5.92E-05
28659 9 K/T 11 rs200724395 0.7636 None gnomAD-4.0.0 2.91304E-05
28660 10 I/T 12 rs397517733 0.2406 None gnomAD-2.1.1 2.01E-05
28660 10 I/T 12 rs397517733 0.2406 None gnomAD-3.1.2 1.32E-05
28660 10 I/T 12 rs397517733 0.2406 None gnomAD-4.0.0 2.91305E-05
28662 12 D/A 14 None 0.5269 None gnomAD-4.0.0 1.59154E-06
28662 12 D/H 14 None 0.5269 None gnomAD-4.0.0 1.20032E-06
28662 12 D/V 14 rs1703115388 0.5269 None gnomAD-4.0.0 1.59154E-06
28662 12 D/Y 14 None 0.5269 None gnomAD-4.0.0 1.20032E-06
28663 13 S/L 15 None 0.2114 None gnomAD-4.0.0 1.59155E-06
28663 13 S/T 15 None 0.2114 None gnomAD-4.0.0 3.60097E-06
28664 14 G/A 16 rs370285001 0.1954 None gnomAD-2.1.1 4.03E-06
28664 14 G/A 16 rs370285001 0.1954 None gnomAD-3.1.2 1.32E-05
28664 14 G/A 16 rs370285001 0.1954 None gnomAD-4.0.0 1.31525E-05
28664 14 G/D 16 None 0.1954 None gnomAD-4.0.0 1.59159E-06
28664 14 G/S 16 None 0.1954 None gnomAD-4.0.0 1.20032E-06
28664 14 G/V 16 rs370285001 0.1954 None gnomAD-2.1.1 4.03E-06
28664 14 G/V 16 rs370285001 0.1954 None gnomAD-4.0.0 6.36637E-06
28665 15 K/E 17 rs1409897523 0.6899 None gnomAD-3.1.2 6.57E-06
28665 15 K/E 17 rs1409897523 0.6899 None gnomAD-4.0.0 6.5741E-06
28666 16 T/I 18 rs1703111112 0.4330 None gnomAD-4.0.0 1.36851E-06
28666 16 T/P 18 rs755715518 0.4330 None gnomAD-2.1.1 4.03E-06
28666 16 T/P 18 rs755715518 0.4330 None gnomAD-4.0.0 1.5915E-06
28668 18 I/K 20 rs374022393 0.0859 None gnomAD-2.1.1 3.23E-05
28668 18 I/K 20 rs374022393 0.0859 None gnomAD-3.1.2 6.57E-06
28668 18 I/K 20 rs374022393 0.0859 None gnomAD-4.0.0 8.05661E-06
28668 18 I/T 20 rs374022393 0.0859 None gnomAD-2.1.1 4.65E-05
28668 18 I/T 20 rs374022393 0.0859 None gnomAD-3.1.2 1.18331E-04
28668 18 I/T 20 rs374022393 0.0859 None gnomAD-4.0.0 3.78041E-05
28668 18 I/V 20 rs72648225 0.0859 None gnomAD-2.1.1 1.07365E-04
28668 18 I/V 20 rs72648225 0.0859 None gnomAD-3.1.2 1.31482E-04
28668 18 I/V 20 rs72648225 0.0859 None gnomAD-4.0.0 6.56927E-05
28670 20 I/T 22 rs1703105655 0.0760 None gnomAD-3.1.2 6.58E-06
28670 20 I/T 22 rs1703105655 0.0760 None gnomAD-4.0.0 2.0301E-06
28670 20 I/V 22 rs1442019751 0.0760 None gnomAD-2.1.1 1.21E-05
28670 20 I/V 22 rs1442019751 0.0760 None gnomAD-3.1.2 6.58E-06
28670 20 I/V 22 rs1442019751 0.0760 None gnomAD-4.0.0 3.09878E-06
28671 21 A/D 23 rs751444096 0.1514 None gnomAD-2.1.1 1.21E-05
28671 21 A/D 23 rs751444096 0.1514 None gnomAD-4.0.0 6.84228E-06
28671 21 A/S 23 rs1276618314 0.1514 None gnomAD-2.1.1 4.03E-06
28671 21 A/S 23 rs1276618314 0.1514 None gnomAD-4.0.0 3.18288E-06
28673 23 V/L 25 rs766198189 0.6041 None gnomAD-2.1.1 4.04E-06
28673 23 V/L 25 rs766198189 0.6041 None gnomAD-4.0.0 1.59131E-06
28675 25 P/L 27 rs766419568 0.1286 None gnomAD-2.1.1 2.15E-05
28675 25 P/L 27 rs766419568 0.1286 None gnomAD-3.1.2 3.95E-05
28675 25 P/L 27 rs766419568 0.1286 None gnomAD-4.0.0 6.25936E-05
28675 25 P/Q 27 rs766419568 0.1286 None gnomAD-2.1.1 3.19E-05
28675 25 P/Q 27 rs766419568 0.1286 None gnomAD-3.1.2 6.58E-06
28675 25 P/Q 27 rs766419568 0.1286 None gnomAD-4.0.0 6.58042E-06
28677 27 F/S 29 rs1553561985 0.3621 None gnomAD-4.0.0 2.40065E-06
28678 28 D/N 30 rs761898404 0.2501 None gnomAD-2.1.1 4.04E-06
28678 28 D/V 30 None 0.2501 None gnomAD-4.0.0 1.59136E-06
28679 29 G/D 31 rs776831920 0.0607 None gnomAD-2.1.1 4.04E-06
28679 29 G/D 31 rs776831920 0.0607 None gnomAD-4.0.0 4.10542E-06
28679 29 G/S 31 rs1447086553 0.0607 None gnomAD-2.1.1 4.04E-06
28680 30 G/E 32 rs1331671619 0.3301 None gnomAD-2.1.1 4.04E-06
28681 31 A/V 33 None 0.1626 None gnomAD-4.0.0 1.36848E-06
28682 32 P/L 34 rs760467197 0.7429 None gnomAD-2.1.1 2.42E-05
28682 32 P/L 34 rs760467197 0.7429 None gnomAD-4.0.0 1.71063E-05
28682 32 P/S 34 rs1158588206 0.7429 None gnomAD-2.1.1 4.04E-06
28683 33 I/T 35 rs1482174421 0.1844 None gnomAD-3.1.2 6.58E-06
28683 33 I/T 35 rs1482174421 0.1844 None gnomAD-4.0.0 6.57592E-06
28683 33 I/V 35 rs1179601203 0.1844 None gnomAD-2.1.1 4.04E-06
28684 34 T/I 36 rs1703079044 0.4958 None gnomAD-4.0.0 1.36849E-06
28685 35 G/R 37 rs1267717857 0.1398 None gnomAD-3.1.2 6.58E-06
28685 35 G/R 37 rs1267717857 0.1398 None gnomAD-4.0.0 6.57739E-06
28686 36 Y/C 38 rs868813015 0.1219 None gnomAD-2.1.1 4.04E-06
28686 36 Y/C 38 rs868813015 0.1219 None gnomAD-4.0.0 6.15817E-06
28688 38 V/L 40 None 0.1016 None gnomAD-4.0.0 3.60097E-06
28689 39 E/K 41 None 0.1745 None gnomAD-4.0.0 4.80131E-06
28692 42 K/N 44 None 0.3794 None gnomAD-4.0.0 1.20032E-06
28692 42 K/R 44 None 0.3794 None gnomAD-4.0.0 1.59151E-06
28693 43 S/C 50 rs893693576 0.2770 None gnomAD-3.1.2 2.63E-05
28693 43 S/C 50 rs893693576 0.2770 None gnomAD-4.0.0 5.57772E-06
28694 44 D/H 54 None 0.7538 None gnomAD-4.0.0 6.84256E-07
28694 44 D/N 54 rs796298969 0.7538 None gnomAD-4.0.0 4.78979E-06
28695 45 D/N 60 rs759939166 0.4430 None gnomAD-2.1.1 2.83E-05
28695 45 D/N 60 rs759939166 0.4430 None gnomAD-4.0.0 6.15827E-06
28696 46 T/I 63 None 0.8481 None gnomAD-4.0.0 6.84249E-07
28696 46 T/N 63 None 0.8481 None gnomAD-4.0.0 6.84249E-07
28697 47 D/A 64 rs1559283455 0.8169 None gnomAD-2.1.1 4.04E-06
28697 47 D/A 64 rs1559283455 0.8169 None gnomAD-3.1.2 6.57E-06
28697 47 D/A 64 rs1559283455 0.8169 None gnomAD-4.0.0 6.57255E-06
28697 47 D/V 64 None 0.8169 None gnomAD-4.0.0 6.84251E-07
28697 47 D/Y 64 None 0.8169 None gnomAD-4.0.0 1.59153E-06
28701 51 S/F 68 rs769512321 0.2819 None gnomAD-2.1.1 4.04E-06
28701 51 S/F 68 rs769512321 0.2819 None gnomAD-3.1.2 6.57E-06
28701 51 S/F 68 rs769512321 0.2819 None gnomAD-4.0.0 6.57384E-06
28702 52 I/L 69 rs747739314 0.2133 None gnomAD-2.1.1 1.08E-05
28702 52 I/L 69 rs747739314 0.2133 None gnomAD-3.1.2 1.31E-05
28702 52 I/L 69 rs747739314 0.2133 None gnomAD-4.0.0 6.19726E-06
28702 52 I/S 69 None 0.2133 None gnomAD-4.0.0 6.84245E-07
28702 52 I/T 69 None 0.2133 None gnomAD-4.0.0 6.84245E-07
28703 53 Q/R 70 rs1406320039 0.7421 None gnomAD-3.1.2 6.57E-06
28703 53 Q/R 70 rs1406320039 0.7421 None gnomAD-4.0.0 6.57134E-06
28704 54 S/G 72 None 0.6868 None gnomAD-4.0.0 4.80131E-06
28706 56 R/Q 83 rs199788826 0.9494 None gnomAD-2.1.1 7.46049E-04
28706 56 R/Q 83 rs199788826 0.9494 None gnomAD-3.1.2 3.41826E-04
28706 56 R/Q 83 rs199788826 0.9494 None 1000 genomes 7.98722E-04
28706 56 R/Q 83 rs199788826 0.9494 None gnomAD-4.0.0 3.61281E-04
28707 57 G/E 88 rs754207859 0.2690 None gnomAD-2.1.1 2.83E-05
28707 57 G/E 88 rs754207859 0.2690 None gnomAD-3.1.2 6.58E-06
28707 57 G/E 88 rs754207859 0.2690 None gnomAD-4.0.0 4.89609E-05
28709 59 E/K 90 rs562860372 0.4540 None gnomAD-2.1.1 4.04E-06
28709 59 E/K 90 rs562860372 0.4540 None gnomAD-3.1.2 6.57E-06
28709 59 E/K 90 rs562860372 0.4540 None 1000 genomes 1.99681E-04
28709 59 E/K 90 rs562860372 0.4540 None gnomAD-4.0.0 6.56754E-06
28709 59 E/Q 90 None 0.4540 None gnomAD-4.0.0 3.42118E-06
28710 60 Y/C 91 None 0.2650 None gnomAD-4.0.0 2.40065E-06
28713 63 S/G 94 rs1703047213 0.6648 None gnomAD-4.0.0 1.20032E-06
28713 63 S/I 94 rs552631098 0.6648 None gnomAD-2.1.1 8.07E-06
28713 63 S/I 94 rs552631098 0.6648 None gnomAD-3.1.2 6.57E-06
28713 63 S/I 94 rs552631098 0.6648 None gnomAD-4.0.0 2.56239E-06
28713 63 S/N 94 rs552631098 0.6648 None gnomAD-3.1.2 6.57E-06
28713 63 S/N 94 rs552631098 0.6648 None 1000 genomes 1.99681E-04
28713 63 S/N 94 rs552631098 0.6648 None gnomAD-4.0.0 2.56201E-06
28714 64 G/R 96 rs532818379 0.5693 None gnomAD-2.1.1 3.22E-05
28714 64 G/R 96 rs532818379 0.5693 None gnomAD-3.1.2 1.97E-05
28714 64 G/R 96 rs532818379 0.5693 None 1000 genomes 3.99361E-04
28714 64 G/R 96 rs532818379 0.5693 None gnomAD-4.0.0 1.30139E-05
28715 65 L/P 97 rs1423594263 0.1293 None gnomAD-2.1.1 4.04E-06
28715 65 L/P 97 rs1423594263 0.1293 None gnomAD-4.0.0 1.59135E-06
28715 65 L/R 97 None 0.1293 None gnomAD-4.0.0 1.59135E-06
28716 66 T/I 98 rs949189486 0.5477 None gnomAD-3.1.2 6.57E-06
28716 66 T/I 98 rs949189486 0.5477 None gnomAD-4.0.0 4.33768E-06
28716 66 T/K 98 None 0.5477 None gnomAD-4.0.0 2.05269E-06
28717 67 T/A 99 rs757567360 0.4785 None gnomAD-2.1.1 1.61E-05
28717 67 T/A 99 rs757567360 0.4785 None gnomAD-3.1.2 6.57E-06
28717 67 T/A 99 rs757567360 0.4785 None gnomAD-4.0.0 7.43644E-06
28719 69 A/D 102 None 0.2042 None gnomAD-4.0.0 1.59138E-06
28719 69 A/V 102 rs753978031 0.2042 None gnomAD-2.1.1 4.03E-06
28719 69 A/V 102 rs753978031 0.2042 None gnomAD-4.0.0 1.59138E-06
28720 70 E/Q 103 None 0.2783 None gnomAD-4.0.0 1.20032E-06
28721 71 Y/H 104 rs186625228 0.1297 None gnomAD-2.1.1 4.03E-06
28721 71 Y/H 104 rs186625228 0.1297 None 1000 genomes 3.99361E-04
28721 71 Y/H 104 rs186625228 0.1297 None gnomAD-4.0.0 1.20032E-06
28722 72 V/I 105 None 0.1104 None gnomAD-4.0.0 1.59135E-06
28724 74 R/K 107 None 0.1640 None gnomAD-4.0.0 1.59133E-06
28724 74 R/S 107 rs1288068048 0.1640 None gnomAD-2.1.1 4.03E-06
28724 74 R/S 107 rs1288068048 0.1640 None gnomAD-4.0.0 4.77394E-06
28724 74 R/T 107 rs753277107 0.1640 None gnomAD-2.1.1 4.03E-06
28725 75 V/I 108 None 0.0737 None gnomAD-4.0.0 1.59134E-06
28725 75 V/L 108 rs1216305497 0.0737 None gnomAD-2.1.1 4.03E-06
28725 75 V/L 108 rs1216305497 0.0737 None gnomAD-4.0.0 1.59134E-06
28727 77 S/F 110 rs768069914 0.0772 None gnomAD-2.1.1 8.05E-06
28727 77 S/F 110 rs768069914 0.0772 None gnomAD-4.0.0 1.59127E-06
28728 78 V/L 111 rs759990422 0.2364 None gnomAD-2.1.1 8.05E-06
28728 78 V/L 111 rs759990422 0.2364 None gnomAD-3.1.2 6.57E-06
28728 78 V/L 111 rs759990422 0.2364 None gnomAD-4.0.0 2.47875E-06
28729 79 N/S 112 rs1703025837 0.1017 None gnomAD-3.1.2 1.31E-05
28729 79 N/S 112 rs1703025837 0.1017 None gnomAD-4.0.0 8.05601E-06
28730 80 K/T 113 rs774912635 0.6239 None gnomAD-2.1.1 4.03E-06
28730 80 K/T 113 rs774912635 0.6239 None gnomAD-4.0.0 1.59132E-06
28731 81 V/A 114 rs1174709364 0.4564 None gnomAD-3.1.2 6.57E-06
28731 81 V/A 114 rs1174709364 0.4564 None gnomAD-4.0.0 6.57255E-06
28731 81 V/F 114 None 0.4564 None gnomAD-4.0.0 1.59133E-06
28731 81 V/I 114 rs761563884 0.4564 None gnomAD-2.1.1 1.21E-05
28731 81 V/I 114 rs761563884 0.4564 None gnomAD-4.0.0 7.95664E-06
28732 82 G/R 115 None 0.2197 None gnomAD-4.0.0 1.59134E-06
28733 83 A/G 117 rs776120734 0.4314 None gnomAD-2.1.1 4.03E-05
28733 83 A/G 117 rs776120734 0.4314 None gnomAD-4.0.0 1.43687E-05
28735 85 D/E 119 None 0.7981 None gnomAD-4.0.0 6.84249E-07
28735 85 D/N 119 rs1703015531 0.7981 None gnomAD-3.1.2 6.57E-06
28735 85 D/N 119 rs1703015531 0.7981 None gnomAD-4.0.0 6.57108E-06
28736 86 P/L 120 rs1457797876 0.3464 None gnomAD-2.1.1 4.03E-06
28736 86 P/L 120 rs1457797876 0.3464 None gnomAD-4.0.0 2.73703E-06
28737 87 S/N 121 None 0.1223 None gnomAD-4.0.0 1.59146E-06
28738 88 D/G 122 None 0.7867 None gnomAD-4.0.0 1.20032E-06
28739 89 S/R 123 rs1468503993 0.3550 None gnomAD-2.1.1 3.18E-05
28740 90 S/C 124 rs1348508376 0.0995 None gnomAD-2.1.1 4.02E-06
28740 90 S/C 124 rs1348508376 0.0995 None gnomAD-4.0.0 6.84277E-07
28741 91 D/N 125 rs1167302737 0.6388 None gnomAD-2.1.1 4.02E-06
28741 91 D/N 125 rs1167302737 0.6388 None gnomAD-4.0.0 1.59169E-06
28742 92 P/L 126 None 0.4270 None gnomAD-4.0.0 1.59183E-06
28743 93 Q/R 127 None 0.2450 None gnomAD-4.0.0 4.79018E-06
28744 94 I/M 129 None 0.4642 None gnomAD-4.0.0 1.20032E-06
28745 95 A/E 130 None 0.1020 None gnomAD-2.1.1 4.03E-06
28745 95 A/E 130 None 0.1020 None gnomAD-4.0.0 6.84387E-07
28745 95 A/G 130 rs377367951 0.1020 None gnomAD-2.1.1 3.58E-05
28745 95 A/G 130 rs377367951 0.1020 None gnomAD-3.1.2 3.94E-05
28745 95 A/G 130 rs377367951 0.1020 None gnomAD-4.0.0 4.15309E-05
28745 95 A/T 130 rs1423142304 0.1020 None gnomAD-2.1.1 4.03E-06
28745 95 A/T 130 rs1423142304 0.1020 None gnomAD-4.0.0 6.36855E-06
28745 95 A/V 130 rs377367951 0.1020 None gnomAD-2.1.1 8.05E-06
28745 95 A/V 130 rs377367951 0.1020 None gnomAD-4.0.0 1.09502E-05