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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29633 1 T/A 1 None 0.5093 None gnomAD-4.0.0 1.67725E-06
29633 1 T/K 1 None 0.5093 None gnomAD-2.1.1 4.59E-06
29633 1 T/K 1 None 0.5093 None gnomAD-4.0.0 1.67545E-06
29634 2 P/A 2 rs1559226382 0.1306 None gnomAD-3.1.2 1.31E-05
29634 2 P/A 2 rs1559226382 0.1306 None gnomAD-4.0.0 1.31456E-05
29634 2 P/L 2 None 0.1306 None gnomAD-4.0.0 2.40079E-06
29634 2 P/S 2 None 0.1306 None gnomAD-4.0.0 1.6715E-06
29635 3 G/E 3 rs1700410853 0.2434 None gnomAD-4.0.0 2.40068E-06
29637 5 P/R 5 None 0.1245 None gnomAD-4.0.0 1.63807E-06
29638 6 G/S 6 rs1328502977 0.2326 None gnomAD-2.1.1 4.28E-06
29638 6 G/S 6 rs1328502977 0.2326 None gnomAD-4.0.0 1.38067E-06
29639 7 I/K 7 rs1039502047 0.5737 None gnomAD-4.0.0 1.20032E-06
29639 7 I/M 7 None 0.5737 None gnomAD-4.0.0 3.60097E-06
29639 7 I/V 7 rs1267455637 0.5737 None gnomAD-2.1.1 4.27E-06
29639 7 I/V 7 rs1267455637 0.5737 None gnomAD-4.0.0 1.37921E-06
29640 8 P/S 9 rs775145047 0.1291 None gnomAD-2.1.1 4.21E-06
29640 8 P/S 9 rs775145047 0.1291 None gnomAD-3.1.2 1.31E-05
29640 8 P/S 9 rs775145047 0.1291 None gnomAD-4.0.0 7.47788E-06
29640 8 P/T 9 None 0.1291 None gnomAD-4.0.0 6.88427E-07
29641 9 E/K 11 rs772380405 0.7212 None gnomAD-2.1.1 1.26E-05
29641 9 E/K 11 rs772380405 0.7212 None gnomAD-4.0.0 2.75391E-06
29642 10 V/A 12 rs1318548034 0.1313 None gnomAD-2.1.1 4.15E-06
29642 10 V/A 12 rs1318548034 0.1313 None gnomAD-4.0.0 1.60862E-06
29642 10 V/G 12 rs1318548034 0.1313 None gnomAD-3.1.2 6.57E-06
29642 10 V/G 12 rs1318548034 0.1313 None gnomAD-4.0.0 6.56676E-06
29643 11 T/A 13 None 0.4719 None gnomAD-4.0.0 1.60337E-06
29643 11 T/K 13 rs1307408186 0.4719 None gnomAD-2.1.1 4.13E-06
29643 11 T/K 13 rs1307408186 0.4719 None gnomAD-4.0.0 4.81084E-06
29644 12 K/R 14 None 0.7207 None gnomAD-4.0.0 1.20032E-06
29645 13 I/F 15 rs746067385 0.2728 None gnomAD-2.1.1 4.12E-06
29645 13 I/F 15 rs746067385 0.2728 None gnomAD-3.1.2 6.57E-06
29645 13 I/F 15 rs746067385 0.2728 None gnomAD-4.0.0 6.83497E-06
29645 13 I/T 15 rs774597895 0.2728 None gnomAD-2.1.1 1.65E-05
29645 13 I/T 15 rs774597895 0.2728 None gnomAD-4.0.0 8.01218E-06
29646 14 T/A 16 None 0.2770 None gnomAD-4.0.0 1.60226E-06
29646 14 T/I 16 rs1338218286 0.2770 None gnomAD-2.1.1 4.13E-06
29646 14 T/I 16 rs1338218286 0.2770 None gnomAD-3.1.2 6.57E-06
29646 14 T/I 16 rs1338218286 0.2770 None gnomAD-4.0.0 1.24283E-06
29646 14 T/N 16 rs1338218286 0.2770 None gnomAD-3.1.2 6.57E-06
29646 14 T/N 16 rs1338218286 0.2770 None gnomAD-4.0.0 1.24283E-06
29647 15 K/N 17 rs368425375 0.3816 None gnomAD-2.1.1 8.25E-06
29647 15 K/N 17 rs368425375 0.3816 None gnomAD-3.1.2 1.31E-05
29647 15 K/N 17 rs368425375 0.3816 None gnomAD-4.0.0 7.72911E-06
29648 16 N/I 18 None 0.5050 None gnomAD-4.0.0 1.60077E-06
29649 17 S/L 19 rs764695663 0.1473 None gnomAD-2.1.1 5.76E-05
29649 17 S/L 19 rs764695663 0.1473 None gnomAD-3.1.2 1.97E-05
29649 17 S/L 19 rs764695663 0.1473 None gnomAD-4.0.0 1.98743E-05
29650 18 M/I 20 rs944381912 0.0714 None gnomAD-2.1.1 3.19E-05
29650 18 M/I 20 rs944381912 0.0714 None gnomAD-3.1.2 1.97E-05
29650 18 M/I 20 rs944381912 0.0714 None gnomAD-4.0.0 3.1047E-06
29650 18 M/R 20 rs778289640 0.0714 None gnomAD-3.1.2 6.57E-06
29650 18 M/R 20 rs778289640 0.0714 None gnomAD-4.0.0 6.56961E-06
29650 18 M/T 20 rs778289640 0.0714 None gnomAD-2.1.1 3.64E-05
29650 18 M/T 20 rs778289640 0.0714 None gnomAD-3.1.2 1.31E-05
29650 18 M/T 20 rs778289640 0.0714 None gnomAD-4.0.0 4.96719E-06
29651 19 T/N 21 None 0.2293 None gnomAD-4.0.0 1.20033E-06
29651 19 T/S 21 None 0.2293 None gnomAD-4.0.0 1.20033E-06
29652 20 V/A 22 rs748609330 0.0840 None gnomAD-2.1.1 2.17E-05
29652 20 V/A 22 rs748609330 0.0840 None gnomAD-3.1.2 1.97E-05
29652 20 V/A 22 rs748609330 0.0840 None gnomAD-4.0.0 1.05495E-05
29652 20 V/I 22 rs756561910 0.0840 None gnomAD-2.1.1 1.81E-05
29652 20 V/I 22 rs756561910 0.0840 None gnomAD-3.1.2 6.57E-05
29652 20 V/I 22 rs756561910 0.0840 None gnomAD-4.0.0 1.92699E-05
29655 23 S/G 25 None 0.4841 None gnomAD-4.0.0 1.20033E-06
29655 23 S/N 25 rs1387331840 0.4841 None gnomAD-2.1.1 8.09E-06
29655 23 S/N 25 rs1387331840 0.4841 None gnomAD-4.0.0 4.77617E-06
29656 24 R/G 26 None 0.7134 None gnomAD-4.0.0 6.8427E-07
29657 25 P/T 27 rs1700388515 0.1677 None gnomAD-4.0.0 6.84252E-07
29658 26 I/T 28 rs750026544 1.2732 None gnomAD-2.1.1 2.42E-05
29658 26 I/T 28 rs750026544 1.2732 None gnomAD-3.1.2 1.31E-05
29658 26 I/T 28 rs750026544 1.2732 None gnomAD-4.0.0 9.91508E-06
29658 26 I/V 28 rs200193877 1.2732 None gnomAD-2.1.1 1.64902E-04
29658 26 I/V 28 rs200193877 1.2732 None gnomAD-3.1.2 2.36531E-04
29658 26 I/V 28 rs200193877 1.2732 None 1000 genomes 1.99681E-04
29658 26 I/V 28 rs200193877 1.2732 None gnomAD-4.0.0 4.58525E-04
29659 27 A/V 29 None 0.4423 None gnomAD-4.0.0 2.40065E-06
29661 29 G/D 31 rs764756194 0.4158 None gnomAD-2.1.1 4.03E-06
29661 29 G/D 31 rs764756194 0.4158 None gnomAD-4.0.0 3.07886E-05
29662 30 G/S 32 rs187460377 0.6823 None gnomAD-2.1.1 2.22023E-04
29662 30 G/S 32 rs187460377 0.6823 None gnomAD-3.1.2 1.90611E-04
29662 30 G/S 32 rs187460377 0.6823 None 1000 genomes 1.99681E-04
29662 30 G/S 32 rs187460377 0.6823 None gnomAD-4.0.0 7.1879E-05
29663 31 S/R 33 None 0.2978 None gnomAD-4.0.0 1.20033E-06
29665 33 I/L 35 None 0.2324 None gnomAD-4.0.0 6.84187E-07
29665 33 I/R 35 None 0.2324 None gnomAD-4.0.0 1.20033E-06
29665 33 I/V 35 rs1700376721 0.2324 None gnomAD-3.1.2 6.57E-06
29665 33 I/V 35 rs1700376721 0.2324 None gnomAD-4.0.0 3.09832E-06
29666 34 S/N 36 None 0.4776 None gnomAD-4.0.0 2.40065E-06
29667 35 G/R 37 None 0.1063 None gnomAD-4.0.0 1.20032E-06
29668 36 Y/F 38 rs760499831 0.1084 None gnomAD-2.1.1 4.03E-06
29668 36 Y/F 38 rs760499831 0.1084 None gnomAD-3.1.2 2.63E-05
29668 36 Y/F 38 rs760499831 0.1084 None gnomAD-4.0.0 2.62874E-05
29669 37 F/S 39 None 0.2314 None gnomAD-4.0.0 1.59111E-06
29670 38 L/P 40 rs931707459 0.1085 None gnomAD-2.1.1 4.03E-06
29670 38 L/P 40 rs931707459 0.1085 None gnomAD-4.0.0 2.05256E-06
29671 39 E/Q 41 None 0.0950 None gnomAD-4.0.0 1.20032E-06
29672 40 K/N 42 None 0.2529 None gnomAD-4.0.0 1.59118E-06
29673 41 R/L 43 rs200639218 0.2339 None gnomAD-2.1.1 1.61E-05
29673 41 R/L 43 rs200639218 0.2339 None gnomAD-3.1.2 6.57E-06
29673 41 R/L 43 rs200639218 0.2339 None gnomAD-4.0.0 6.19677E-06
29673 41 R/Q 43 rs200639218 0.2339 None gnomAD-2.1.1 2.14378E-04
29673 41 R/Q 43 rs200639218 0.2339 None gnomAD-3.1.2 2.10308E-04
29673 41 R/Q 43 rs200639218 0.2339 None gnomAD-4.0.0 1.43146E-04
29674 42 D/N 44 None 0.2215 None gnomAD-4.0.0 1.59111E-06
29675 43 K/R 50 None 0.4307 None gnomAD-4.0.0 1.59106E-06
29677 45 S/R 60 None 0.2629 None gnomAD-4.0.0 1.59113E-06
29678 46 L/P 63 None 1.2615 None gnomAD-4.0.0 1.59118E-06
29679 47 G/R 64 rs774651157 0.2536 None gnomAD-2.1.1 4.02E-06
29679 47 G/R 64 rs774651157 0.2536 None gnomAD-3.1.2 1.31E-05
29679 47 G/R 64 rs774651157 0.2536 None gnomAD-4.0.0 2.66471E-05
29680 48 W/R 65 None 0.2217 None gnomAD-4.0.0 1.20032E-06
29680 48 W/S 65 rs1386322398 0.2217 None gnomAD-2.1.1 4.02E-06
29680 48 W/S 65 rs1386322398 0.2217 None gnomAD-4.0.0 1.59116E-06
29682 50 K/Q 67 rs370563246 0.3135 None gnomAD-2.1.1 1.61E-05
29682 50 K/Q 67 rs370563246 0.3135 None gnomAD-3.1.2 1.97E-05
29682 50 K/Q 67 rs370563246 0.3135 None gnomAD-4.0.0 1.85903E-05
29683 51 V/I 68 rs749433506 0.2654 None gnomAD-2.1.1 1.61E-05
29683 51 V/I 68 rs749433506 0.2654 None gnomAD-4.0.0 4.7735E-06
29685 53 K/R 70 rs773157007 1.0266 None gnomAD-2.1.1 1.61E-05
29685 53 K/R 70 rs773157007 1.0266 None gnomAD-4.0.0 6.36452E-06
29686 54 E/D 72 rs1164496806 0.8592 None gnomAD-2.1.1 4.02E-06
29686 54 E/K 72 None 0.8592 None gnomAD-4.0.0 6.84199E-07
29686 54 E/Q 72 None 0.8592 None gnomAD-4.0.0 6.84199E-07
29688 56 I/L 77 rs748577989 0.1208 None gnomAD-2.1.1 8.05E-06
29688 56 I/L 77 rs748577989 0.1208 None gnomAD-3.1.2 6.57E-06
29688 56 I/L 77 rs748577989 0.1208 None gnomAD-4.0.0 5.124E-06
29688 56 I/N 77 rs1559224502 0.1208 None gnomAD-4.0.0 6.15786E-06
29688 56 I/T 77 rs1559224502 0.1208 None gnomAD-2.1.1 8.04E-06
29688 56 I/T 77 rs1559224502 0.1208 None gnomAD-4.0.0 1.36841E-06
29688 56 I/V 77 rs748577989 0.1208 None gnomAD-3.1.2 6.57E-06
29688 56 I/V 77 rs748577989 0.1208 None gnomAD-4.0.0 2.562E-06
29689 57 R/C 83 rs781635476 0.9056 None gnomAD-2.1.1 8.05E-06
29689 57 R/C 83 rs781635476 0.9056 None gnomAD-3.1.2 1.31E-05
29689 57 R/C 83 rs781635476 0.9056 None gnomAD-4.0.0 1.42536E-05
29689 57 R/G 83 rs781635476 0.9056 None gnomAD-4.0.0 6.8422E-07
29689 57 R/H 83 rs368634670 0.9056 None gnomAD-2.1.1 3.57E-05
29689 57 R/H 83 rs368634670 0.9056 None gnomAD-3.1.2 1.11732E-04
29689 57 R/H 83 rs368634670 0.9056 None 1000 genomes 1.99681E-04
29689 57 R/H 83 rs368634670 0.9056 None gnomAD-4.0.0 4.39954E-05
29690 58 D/N 88 rs1209113873 0.7169 None gnomAD-2.1.1 4.02E-06
29690 58 D/N 88 rs1209113873 0.7169 None gnomAD-4.0.0 1.36843E-06
29691 59 T/N 89 rs794729525 0.2167 None gnomAD-3.1.2 6.57E-06
29691 59 T/N 89 rs794729525 0.2167 None gnomAD-4.0.0 1.1155E-05
29692 60 R/K 90 rs745523889 0.6703 None gnomAD-2.1.1 8.05E-06
29692 60 R/K 90 rs745523889 0.6703 None gnomAD-4.0.0 6.1581E-06
29693 61 Q/H 91 rs778478943 0.2221 None gnomAD-2.1.1 8.05E-06
29693 61 Q/H 91 rs778478943 0.2221 None gnomAD-4.0.0 4.77395E-06
29694 62 K/E 92 rs1222832366 0.5191 None gnomAD-2.1.1 8.05E-06
29694 62 K/E 92 rs1222832366 0.5191 None gnomAD-4.0.0 1.59134E-06
29694 62 K/N 92 None 0.5191 None gnomAD-4.0.0 1.59139E-06
29696 64 T/P 94 rs1341013204 0.5822 None gnomAD-2.1.1 4.02E-06
29696 64 T/P 94 rs1341013204 0.5822 None gnomAD-4.0.0 1.59148E-06
29698 66 L/I 97 rs756899225 0.1263 None gnomAD-2.1.1 4.02E-06
29698 66 L/I 97 rs756899225 0.1263 None gnomAD-4.0.0 9.58018E-06
29699 67 T/A 98 None 0.5486 None gnomAD-4.0.0 6.84309E-07
29700 68 E/K 99 rs1301227457 0.4267 None gnomAD-2.1.1 4.03E-06
29700 68 E/K 99 rs1301227457 0.4267 None gnomAD-4.0.0 1.59198E-06
29700 68 E/V 99 rs763490789 0.4267 None gnomAD-4.0.0 2.053E-06
29702 70 S/G 102 rs1700336824 0.1604 None gnomAD-3.1.2 6.57E-06
29702 70 S/G 102 rs1700336824 0.1604 None gnomAD-4.0.0 2.0298E-06
29702 70 S/N 102 None 0.1604 None gnomAD-4.0.0 3.42182E-06
29702 70 S/T 102 rs1304120500 0.1604 None gnomAD-4.0.0 2.73745E-06
29703 71 D/E 103 rs1368949216 0.2512 None gnomAD-2.1.1 4.03E-06
29703 71 D/V 103 rs1700334613 0.2512 None gnomAD-3.1.2 6.57E-06
29703 71 D/V 103 rs1700334613 0.2512 None gnomAD-4.0.0 3.84485E-06
29703 71 D/Y 103 rs1429421793 0.2512 None gnomAD-2.1.1 1.21E-05
29703 71 D/Y 103 rs1429421793 0.2512 None gnomAD-4.0.0 1.75151E-05
29704 72 Y/C 104 rs727504503 0.1113 None gnomAD-2.1.1 4.03E-06
29704 72 Y/C 104 rs727504503 0.1113 None gnomAD-3.1.2 1.31E-05
29704 72 Y/C 104 rs727504503 0.1113 None gnomAD-4.0.0 4.33887E-06
29705 73 Q/H 105 None 0.0935 None gnomAD-4.0.0 1.23202E-05
29705 73 Q/R 105 rs752538734 0.0935 None gnomAD-2.1.1 8.06E-06
29705 73 Q/R 105 rs752538734 0.0935 None gnomAD-4.0.0 1.09514E-05
29707 75 R/G 107 None 0.1114 None gnomAD-4.0.0 1.59287E-06
29708 76 V/G 108 None 0.0597 None gnomAD-4.0.0 1.59332E-06
29708 76 V/L 108 None 0.0597 None gnomAD-4.0.0 1.20032E-06
29709 77 C/Y 109 None 0.0608 None gnomAD-4.0.0 1.59369E-06
29710 78 A/T 110 None 0.0927 None gnomAD-4.0.0 6.84738E-07
29711 79 V/I 111 None 0.1543 None gnomAD-4.0.0 1.59482E-06
29713 81 A/T 113 rs1199888872 0.6749 None gnomAD-2.1.1 4.05E-06
29713 81 A/T 113 rs1199888872 0.6749 None gnomAD-3.1.2 1.31E-05
29713 81 A/T 113 rs1199888872 0.6749 None gnomAD-4.0.0 9.92656E-06
29716 84 Q/P 117 rs1482572884 0.3584 None gnomAD-2.1.1 4.07E-06
29716 84 Q/P 117 rs1482572884 0.3584 None gnomAD-4.0.0 1.60012E-06
29717 85 G/D 118 None 0.1789 None gnomAD-4.0.0 1.20032E-06
29717 85 G/R 118 rs751391249 0.1789 None gnomAD-2.1.1 2.45E-05
29717 85 G/R 118 rs751391249 0.1789 None gnomAD-4.0.0 6.17602E-06
29718 86 P/A 119 rs765594600 0.4032 None gnomAD-2.1.1 4.08E-06
29718 86 P/A 119 rs765594600 0.4032 None gnomAD-4.0.0 1.44141E-05
29718 86 P/R 119 None 0.4032 None gnomAD-4.0.0 3.20749E-06
29718 86 P/S 119 rs765594600 0.4032 None gnomAD-3.1.2 6.57E-06
29718 86 P/S 119 rs765594600 0.4032 None gnomAD-4.0.0 6.57117E-06
29720 88 S/A 121 rs555559270 0.1021 None gnomAD-2.1.1 4.1E-06
29720 88 S/A 121 rs555559270 0.1021 None gnomAD-4.0.0 2.74763E-06
29720 88 S/Y 121 rs1553543837 0.1021 None gnomAD-4.0.0 1.60622E-06
29722 90 P/A 123 None 0.3609 None gnomAD-4.0.0 2.06279E-06
29722 90 P/Q 123 rs763050858 0.3609 None gnomAD-2.1.1 4.13E-06
29722 90 P/Q 123 rs763050858 0.3609 None gnomAD-4.0.0 1.61136E-06
29722 90 P/S 123 None 0.3609 None gnomAD-4.0.0 2.75038E-06
29722 90 P/T 123 rs538120743 0.3609 None gnomAD-2.1.1 3.7E-05
29722 90 P/T 123 rs538120743 0.3609 None gnomAD-3.1.2 6.57E-06
29722 90 P/T 123 rs538120743 0.3609 None 1000 genomes 1.99681E-04
29722 90 P/T 123 rs538120743 0.3609 None gnomAD-4.0.0 1.12034E-05
29723 91 S/P 124 rs1479424442 0.1187 None gnomAD-3.1.2 6.57E-06
29723 91 S/P 124 rs1479424442 0.1187 None gnomAD-4.0.0 6.56944E-06
29723 91 S/Y 124 None 0.1187 None gnomAD-4.0.0 1.61291E-06
29724 92 E/D 125 None 0.6797 None gnomAD-4.0.0 1.61543E-06
29724 92 E/K 125 rs370918981 0.6797 None gnomAD-2.1.1 1.47E-05
29724 92 E/K 125 rs370918981 0.6797 None gnomAD-3.1.2 1.31E-05
29724 92 E/K 125 rs370918981 0.6797 None gnomAD-4.0.0 1.68287E-05
29725 93 F/S 126 rs1284407579 0.3072 None gnomAD-2.1.1 4.16E-06
29725 93 F/S 126 rs1284407579 0.3072 None gnomAD-4.0.0 1.6182E-06
29726 94 Y/C 127 rs1348960707 0.2315 None gnomAD-2.1.1 4.18E-06
29726 94 Y/C 127 rs1348960707 0.2315 None gnomAD-4.0.0 1.62179E-06
29726 94 Y/H 127 None 0.2315 None gnomAD-4.0.0 3.24086E-06
29728 96 A/S 130 None 0.0702 None gnomAD-4.0.0 6.90785E-07