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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 90 100
P P D P P I K L K I G L I T K N T V H L S W K P P K N D G G S P V T H Y I V E C L A W D P T G T K K E A W R Q C N K R D V E E L Q F T V E D L V E G G E Y E F R V K A V N A A G V S K P S A T V G P V T V K D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18579 1 P/S 1 rs912809911 0.5071 None gnomAD-2.1.1 5.59E-06
18579 1 P/S 1 rs912809911 0.5071 None gnomAD-4.0.0 7.28409E-07
18579 1 P/T 1 rs912809911 0.5071 None gnomAD-2.1.1 5.59E-06
18579 1 P/T 1 rs912809911 0.5071 None gnomAD-3.1.2 6.58E-06
18579 1 P/T 1 rs912809911 0.5071 None gnomAD-4.0.0 1.96747E-06
18580 2 P/S 2 rs528329600 0.1096 None gnomAD-2.1.1 7.18E-05
18580 2 P/S 2 rs528329600 0.1096 None gnomAD-3.1.2 1.32E-05
18580 2 P/S 2 rs528329600 0.1096 None 1000 genomes 1.99681E-04
18580 2 P/S 2 rs528329600 0.1096 None gnomAD-4.0.0 6.87109E-05
18582 4 P/L 4 rs201194435 0.2525 None gnomAD-2.1.1 8.93E-05
18582 4 P/L 4 rs201194435 0.2525 None gnomAD-3.1.2 9.21E-05
18582 4 P/L 4 rs201194435 0.2525 None gnomAD-4.0.0 6.67409E-05
18582 4 P/S 4 rs1213775355 0.2525 None gnomAD-2.1.1 3.19E-05
18582 4 P/S 4 rs1213775355 0.2525 None gnomAD-3.1.2 6.58E-06
18582 4 P/S 4 rs1213775355 0.2525 None gnomAD-4.0.0 6.57947E-06
18583 5 P/L 5 rs1559684715 0.1223 None gnomAD-4.0.0 1.84121E-06
18584 6 I/V 6 rs760979964 0.2494 None gnomAD-2.1.1 5.29E-06
18584 6 I/V 6 rs760979964 0.2494 None gnomAD-4.0.0 5.03976E-06
18586 8 L/F 9 rs773983711 0.1854 None gnomAD-2.1.1 5.25E-06
18586 8 L/F 9 rs773983711 0.1854 None gnomAD-4.0.0 7.18266E-07
18586 8 L/I 9 None 0.1854 None gnomAD-4.0.0 1.43653E-06
18588 10 I/M 12 None 0.3158 None gnomAD-4.0.0 7.14823E-07
18590 12 L/I 14 None 0.7078 None gnomAD-4.0.0 3.51893E-06
18591 13 I/V 15 rs890362775 0.1317 None gnomAD-2.1.1 9.81E-06
18592 14 T/A 16 None 0.2292 None gnomAD-4.0.0 1.20032E-06
18593 15 K/E 17 None 0.5708 None gnomAD-4.0.0 1.71549E-06
18594 16 N/H 18 None 0.4181 None gnomAD-4.0.0 1.70542E-06
18595 17 T/P 19 None 0.2026 None gnomAD-4.0.0 1.20032E-06
18595 17 T/R 19 rs770499179 0.2026 None gnomAD-2.1.1 4.49E-05
18595 17 T/R 19 rs770499179 0.2026 None gnomAD-3.1.2 5.92E-05
18595 17 T/R 19 rs770499179 0.2026 None gnomAD-4.0.0 1.9058E-05
18596 18 V/L 20 rs777489999 0.0952 None gnomAD-2.1.1 4.54E-06
18596 18 V/L 20 rs777489999 0.0952 None gnomAD-4.0.0 1.67899E-06
18596 18 V/M 20 rs777489999 0.0952 None gnomAD-2.1.1 4.54E-06
18596 18 V/M 20 rs777489999 0.0952 None gnomAD-4.0.0 1.67899E-06
18597 19 H/P 21 None 0.3106 None gnomAD-2.1.1 4.41E-06
18597 19 H/P 21 None 0.3106 None gnomAD-4.0.0 1.65553E-06
18597 19 H/Q 21 None 0.3106 None gnomAD-4.0.0 6.94644E-07
18597 19 H/R 21 rs748143013 0.3106 None gnomAD-2.1.1 8.82E-06
18597 19 H/R 21 rs748143013 0.3106 None gnomAD-4.0.0 3.31106E-06
18597 19 H/Y 21 rs1285092776 0.3106 None gnomAD-2.1.1 4.41E-06
18597 19 H/Y 21 rs1285092776 0.3106 None gnomAD-4.0.0 4.96806E-06
18602 24 P/H 26 rs559554374 0.3963 None gnomAD-2.1.1 8.41E-06
18602 24 P/H 26 rs559554374 0.3963 None gnomAD-3.1.2 6.58E-06
18602 24 P/H 26 rs559554374 0.3963 None 1000 genomes 1.99681E-04
18602 24 P/H 26 rs559554374 0.3963 None gnomAD-4.0.0 2.60146E-06
18602 24 P/S 26 rs781300931 0.3963 None gnomAD-3.1.2 1.97E-05
18602 24 P/S 26 rs781300931 0.3963 None gnomAD-4.0.0 5.61931E-06
18602 24 P/T 26 rs781300931 0.3963 None gnomAD-2.1.1 8.42E-06
18602 24 P/T 26 rs781300931 0.3963 None gnomAD-3.1.2 6.58E-06
18602 24 P/T 26 rs781300931 0.3963 None gnomAD-4.0.0 1.8731E-06
18603 25 P/L 27 rs531760043 0.1539 None gnomAD-2.1.1 2.09E-05
18603 25 P/L 27 rs531760043 0.1539 None gnomAD-4.0.0 9.64776E-06
18603 25 P/S 27 None 0.1539 None gnomAD-4.0.0 1.20032E-06
18605 27 N/T 29 None 0.5510 None gnomAD-4.0.0 1.61138E-06
18606 28 D/N 30 None 0.2669 None gnomAD-4.0.0 2.40065E-06
18606 28 D/V 30 None 0.2669 None gnomAD-4.0.0 1.20033E-06
18609 31 S/F 33 None 0.2394 None gnomAD-4.0.0 1.20032E-06
18609 31 S/Y 33 None 0.2394 None gnomAD-4.0.0 2.40064E-06
18610 32 P/S 34 rs1053494929 0.6297 None gnomAD-2.1.1 4.08E-06
18610 32 P/S 34 rs1053494929 0.6297 None gnomAD-3.1.2 6.58E-06
18610 32 P/S 34 rs1053494929 0.6297 None gnomAD-4.0.0 1.86341E-06
18611 33 V/L 35 None 0.2136 None gnomAD-4.0.0 1.20032E-06
18612 34 T/I 36 None 0.3735 None gnomAD-4.0.0 1.37032E-06
18612 34 T/N 36 rs765352575 0.3735 None gnomAD-2.1.1 4.06E-06
18612 34 T/N 36 rs765352575 0.3735 None gnomAD-4.0.0 1.37032E-06
18613 35 H/D 37 None 0.2099 None gnomAD-4.0.0 1.59674E-06
18613 35 H/P 37 None 0.2099 None gnomAD-4.0.0 1.59553E-06
18614 36 Y/C 38 None 0.1125 None gnomAD-4.0.0 1.59422E-06
18615 37 I/S 39 rs1474944420 0.2179 None gnomAD-2.1.1 4.04E-06
18615 37 I/S 39 rs1474944420 0.2179 None gnomAD-4.0.0 3.42349E-06
18616 38 V/A 40 rs2053304882 0.0898 None gnomAD-4.0.0 1.5935E-06
18617 39 E/D 41 rs878854316 0.1379 None gnomAD-2.1.1 4.04E-06
18617 39 E/D 41 rs878854316 0.1379 None gnomAD-4.0.0 2.0537E-06
18617 39 E/G 41 None 0.1379 None gnomAD-4.0.0 3.60097E-06
18617 39 E/V 41 None 0.1379 None gnomAD-4.0.0 1.20032E-06
18618 40 C/F 42 None 0.1289 None gnomAD-4.0.0 1.59314E-06
18618 40 C/G 42 None 0.1289 None gnomAD-4.0.0 2.73822E-06
18618 40 C/R 42 rs369260968 0.1289 None gnomAD-2.1.1 6.45E-05
18618 40 C/R 42 rs369260968 0.1289 None gnomAD-3.1.2 1.90913E-04
18618 40 C/R 42 rs369260968 0.1289 None gnomAD-4.0.0 3.2244E-05
18619 41 L/P 43 rs1375513422 0.1326 None gnomAD-3.1.2 6.58E-06
18619 41 L/P 43 rs1375513422 0.1326 None gnomAD-4.0.0 6.58077E-06
18620 42 A/G 44 rs549301447 0.2245 None gnomAD-2.1.1 8.07E-06
18620 42 A/G 44 rs549301447 0.2245 None gnomAD-4.0.0 3.42264E-06
18620 42 A/V 44 rs549301447 0.2245 None gnomAD-3.1.2 6.58E-06
18620 42 A/V 44 rs549301447 0.2245 None 1000 genomes 1.99681E-04
18620 42 A/V 44 rs549301447 0.2245 None gnomAD-4.0.0 1.85999E-06
18621 43 W/R 45 rs969457022 0.6993 None gnomAD-2.1.1 4.04E-06
18621 43 W/R 45 rs969457022 0.6993 None gnomAD-4.0.0 3.1859E-06
18622 44 D/G 46 None 0.2783 None gnomAD-4.0.0 1.20032E-06
18622 44 D/N 46 rs377683368 0.2783 None gnomAD-3.1.2 6.58E-06
18622 44 D/N 46 rs377683368 0.2783 None gnomAD-4.0.0 2.03039E-06
18623 45 P/R 47 rs764593028 0.7423 None gnomAD-2.1.1 8.07E-06
18623 45 P/R 47 rs764593028 0.7423 None gnomAD-3.1.2 1.32E-05
18623 45 P/R 47 rs764593028 0.7423 None gnomAD-4.0.0 5.5801E-06
18623 45 P/S 47 rs754308357 0.7423 None gnomAD-2.1.1 4.04E-06
18623 45 P/S 47 rs754308357 0.7423 None gnomAD-4.0.0 1.59287E-06
18624 46 T/A 48 rs775771274 0.4949 None gnomAD-2.1.1 4.03E-06
18624 46 T/A 48 rs775771274 0.4949 None gnomAD-4.0.0 2.05349E-06
18624 46 T/P 48 None 0.4949 None gnomAD-4.0.0 1.36899E-06
18626 48 T/P 50 rs762549682 0.6133 None gnomAD-2.1.1 8.07E-06
18626 48 T/P 50 rs762549682 0.6133 None gnomAD-3.1.2 6.58E-06
18626 48 T/P 50 rs762549682 0.6133 None gnomAD-4.0.0 2.56465E-06
18626 48 T/S 50 None 0.6133 None gnomAD-4.0.0 1.59276E-06
18627 49 K/T 54 rs727503597 0.8152 None gnomAD-3.1.2 6.58E-06
18627 49 K/T 54 rs727503597 0.8152 None gnomAD-4.0.0 1.42123E-05
18628 50 K/E 62 rs781398210 1.1084 None gnomAD-2.1.1 1.21E-05
18628 50 K/E 62 rs781398210 1.1084 None gnomAD-4.0.0 2.46413E-05
18628 50 K/R 62 rs747690782 1.1084 None gnomAD-2.1.1 1.61E-05
18628 50 K/R 62 rs747690782 1.1084 None gnomAD-4.0.0 4.79132E-06
18628 50 K/T 62 None 1.1084 None gnomAD-4.0.0 6.84475E-07
18630 52 A/V 64 None 0.6112 None gnomAD-4.0.0 1.20032E-06
18631 53 W/C 65 None 0.2920 None gnomAD-4.0.0 1.59261E-06
18632 54 R/S 66 rs563589789 0.7137 None gnomAD-2.1.1 4.03E-06
18632 54 R/S 66 rs563589789 0.7137 None gnomAD-3.1.2 2.63E-05
18632 54 R/S 66 rs563589789 0.7137 None 1000 genomes 1.99681E-04
18632 54 R/S 66 rs563589789 0.7137 None gnomAD-4.0.0 2.6304E-05
18632 54 R/T 66 None 0.7137 None gnomAD-4.0.0 2.73784E-06
18633 55 Q/H 67 None 0.3603 None gnomAD-4.0.0 6.84467E-07
18634 56 C/R 68 rs2154192588 0.1899 None gnomAD-4.0.0 3.18529E-06
18635 57 N/K 69 None 0.1451 None gnomAD-4.0.0 1.20032E-06
18635 57 N/S 69 None 0.1451 None gnomAD-4.0.0 1.20032E-06
18637 59 R/C 72 rs374151130 0.8828 None gnomAD-2.1.1 4.03E-06
18637 59 R/C 72 rs374151130 0.8828 None gnomAD-3.1.2 6.58E-06
18637 59 R/C 72 rs374151130 0.8828 None gnomAD-4.0.0 5.14614E-05
18637 59 R/H 72 rs758627195 0.8828 None gnomAD-2.1.1 1.61E-05
18637 59 R/H 72 rs758627195 0.8828 None gnomAD-3.1.2 1.97E-05
18637 59 R/H 72 rs758627195 0.8828 None gnomAD-4.0.0 1.79789E-05
18637 59 R/L 72 rs758627195 0.8828 None gnomAD-4.0.0 6.84463E-07
18637 59 R/S 72 rs374151130 0.8828 None gnomAD-2.1.1 3.23E-05
18637 59 R/S 72 rs374151130 0.8828 None gnomAD-3.1.2 6.58E-06
18637 59 R/S 72 rs374151130 0.8828 None gnomAD-4.0.0 1.48804E-05
18638 60 D/A 75 rs746044045 0.6083 None gnomAD-2.1.1 4.03E-06
18638 60 D/A 75 rs746044045 0.6083 None gnomAD-4.0.0 6.8448E-07
18638 60 D/G 75 None 0.6083 None gnomAD-4.0.0 6.8448E-07
18639 61 V/A 77 rs368701590 0.1208 None gnomAD-2.1.1 4.03E-06
18639 61 V/A 77 rs368701590 0.1208 None gnomAD-3.1.2 6.58E-06
18639 61 V/A 77 rs368701590 0.1208 None gnomAD-4.0.0 3.84667E-06
18639 61 V/M 77 rs727503596 0.1208 None gnomAD-2.1.1 8.06E-06
18639 61 V/M 77 rs727503596 0.1208 None gnomAD-3.1.2 3.95E-05
18639 61 V/M 77 rs727503596 0.1208 None gnomAD-4.0.0 6.81981E-06
18641 63 E/K 88 None 0.6549 None gnomAD-4.0.0 6.84482E-07
18642 64 L/Q 89 rs140714512 0.2765 None gnomAD-2.1.1 4.83133E-04
18642 64 L/Q 89 rs140714512 0.2765 None gnomAD-3.1.2 4.67228E-04
18642 64 L/Q 89 rs140714512 0.2765 None 1000 genomes 1.99681E-04
18642 64 L/Q 89 rs140714512 0.2765 None gnomAD-4.0.0 3.50269E-04
18644 66 F/L 91 rs2154192554 0.1873 None gnomAD-3.1.2 6.58E-06
18644 66 F/L 91 rs2154192554 0.1873 None gnomAD-4.0.0 6.578E-06
18644 66 F/Y 91 rs879101964 0.1873 None gnomAD-2.1.1 3.19E-05
18644 66 F/Y 91 rs879101964 0.1873 None gnomAD-3.1.2 6.58E-06
18644 66 F/Y 91 rs879101964 0.1873 None gnomAD-4.0.0 2.56481E-06
18646 68 V/A 93 rs2053262199 0.1212 None gnomAD-4.0.0 3.4224E-06
18647 69 E/G 94 rs2053260795 0.6191 None gnomAD-3.1.2 6.58E-06
18647 69 E/G 94 rs2053260795 0.6191 None gnomAD-4.0.0 2.47995E-06
18650 72 V/A 98 rs1459999072 0.6211 None gnomAD-3.1.2 6.58E-06
18650 72 V/A 98 rs1459999072 0.6211 None gnomAD-4.0.0 1.24003E-06
18650 72 V/E 98 rs1459999072 0.6211 None gnomAD-4.0.0 6.84505E-07
18651 73 E/G 99 rs876658067 0.5461 None gnomAD-2.1.1 4.03E-06
18651 73 E/G 99 rs876658067 0.5461 None gnomAD-4.0.0 8.214E-06
18651 73 E/K 99 None 0.5461 None gnomAD-4.0.0 1.59289E-06
18652 74 G/D 100 rs1368338710 0.4261 None gnomAD-2.1.1 4.03E-06
18652 74 G/D 100 rs1368338710 0.4261 None gnomAD-4.0.0 3.18586E-06
18653 75 G/R 102 rs367780800 0.1640 None gnomAD-2.1.1 8.06E-06
18653 75 G/R 102 rs367780800 0.1640 None gnomAD-4.0.0 1.5929E-06
18654 76 E/D 103 rs2053252489 0.4268 None gnomAD-3.1.2 6.58E-06
18654 76 E/D 103 rs2053252489 0.4268 None gnomAD-4.0.0 6.57869E-06
18654 76 E/K 103 rs879244493 0.4268 None gnomAD-3.1.2 6.58E-06
18654 76 E/K 103 rs879244493 0.4268 None gnomAD-4.0.0 6.57981E-06
18654 76 E/V 103 None 0.4268 None gnomAD-4.0.0 1.20032E-06
18655 77 Y/C 104 rs1391393842 0.1531 None gnomAD-4.0.0 1.20032E-06
18656 78 E/G 105 None 0.1239 None gnomAD-4.0.0 1.20032E-06
18657 79 F/S 106 rs1309684601 0.1025 None gnomAD-2.1.1 4.03E-06
18657 79 F/S 106 rs1309684601 0.1025 None gnomAD-4.0.0 1.59296E-06
18658 80 R/Q 107 rs370888932 0.1201 None gnomAD-2.1.1 5.01E-05
18658 80 R/Q 107 rs370888932 0.1201 None gnomAD-3.1.2 5.26E-05
18658 80 R/Q 107 rs370888932 0.1201 None 1000 genomes 3.99361E-04
18658 80 R/Q 107 rs370888932 0.1201 None gnomAD-4.0.0 3.71866E-05
18659 81 V/I 108 None 0.0810 None gnomAD-4.0.0 1.20032E-06
18660 82 K/N 109 rs776347511 0.1788 None gnomAD-4.0.0 6.84524E-07
18661 83 A/V 110 rs370732855 0.0752 None gnomAD-2.1.1 7.15E-06
18661 83 A/V 110 rs370732855 0.0752 None gnomAD-3.1.2 6.58E-06
18661 83 A/V 110 rs370732855 0.0752 None gnomAD-4.0.0 2.56494E-06
18662 84 V/L 111 rs746969341 0.1314 None gnomAD-3.1.2 6.58E-06
18662 84 V/L 111 rs746969341 0.1314 None gnomAD-4.0.0 2.56482E-06
18663 85 N/H 112 rs1425177371 0.1172 None gnomAD-2.1.1 4.02E-06
18663 85 N/H 112 rs1425177371 0.1172 None gnomAD-4.0.0 1.59298E-06
18663 85 N/S 112 rs368350844 0.1172 None gnomAD-2.1.1 2.86E-05
18663 85 N/S 112 rs368350844 0.1172 None gnomAD-3.1.2 3.29E-05
18663 85 N/S 112 rs368350844 0.1172 None gnomAD-4.0.0 5.26996E-05
18665 87 A/V 114 None 0.4754 None gnomAD-4.0.0 6.84532E-07
18666 88 G/E 115 rs757529178 0.1995 None gnomAD-2.1.1 4.02E-06
18666 88 G/R 115 rs779053249 0.1995 None gnomAD-2.1.1 4.02E-06
18666 88 G/R 115 rs779053249 0.1995 None gnomAD-4.0.0 2.73814E-06
18668 90 S/R 118 None 0.0978 None gnomAD-4.0.0 1.20032E-06
18669 91 K/E 119 rs749362468 0.8431 None gnomAD-2.1.1 4.02E-06
18669 91 K/E 119 rs749362468 0.8431 None gnomAD-4.0.0 1.36911E-06
18669 91 K/N 119 None 0.8431 None gnomAD-4.0.0 1.59328E-06
18670 92 P/S 120 rs777752824 0.3206 None gnomAD-2.1.1 4.02E-06
18670 92 P/S 120 rs777752824 0.3206 None gnomAD-3.1.2 6.58E-06
18670 92 P/S 120 rs777752824 0.3206 None gnomAD-4.0.0 5.07557E-06
18672 94 A/S 122 None 0.6408 None gnomAD-4.0.0 1.59331E-06
18674 96 V/I 124 None 0.1664 None gnomAD-4.0.0 2.05385E-06
18674 96 V/L 124 rs753094651 0.1664 None gnomAD-2.1.1 4.02E-06
18675 97 G/C 125 rs1478453765 0.3416 None gnomAD-2.1.1 6.38E-05
18675 97 G/C 125 rs1478453765 0.3416 None gnomAD-3.1.2 2.63E-05
18675 97 G/C 125 rs1478453765 0.3416 None gnomAD-4.0.0 2.63186E-05
18677 99 V/M 127 rs2053234064 0.1654 None gnomAD-4.0.0 1.59354E-06
18678 100 T/I 129 None 0.3822 None gnomAD-4.0.0 1.20032E-06
18678 100 T/N 129 rs2053232530 0.3822 None gnomAD-4.0.0 1.20032E-06
18679 101 V/I 130 None 0.0735 None gnomAD-4.0.0 1.56042E-05
18680 102 K/E 131 None 0.5760 None gnomAD-4.0.0 1.20032E-06
18681 103 D/Y 132 None 0.6076 None gnomAD-4.0.0 1.59355E-06