Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9698 1 L/V 1 None 0.3165 None gnomAD-4.0.0 3.18886E-06
9701 4 V/M 4 None 0.4039 None gnomAD-4.0.0 1.36981E-06
9704 7 P/L 8 rs1344682490 0.1930 None gnomAD-3.1.2 6.57E-06
9704 7 P/L 8 rs1344682490 0.1930 None gnomAD-4.0.0 3.72096E-06
9704 7 P/S 8 rs1473433832 0.1930 None gnomAD-2.1.1 4.05E-06
9704 7 P/S 8 rs1473433832 0.1930 None gnomAD-4.0.0 1.36958E-06
9705 8 Q/R 9 None 0.8390 None gnomAD-4.0.0 1.36967E-06
9706 9 S/N 11 None 0.3865 None gnomAD-4.0.0 1.59501E-06
9707 10 I/N 13 rs1484487083 0.2083 None gnomAD-2.1.1 4.06E-06
9707 10 I/N 13 rs1484487083 0.2083 None gnomAD-4.0.0 6.84899E-07
9707 10 I/S 13 None 0.2083 None gnomAD-4.0.0 6.84899E-07
9707 10 I/T 13 None 0.2083 None gnomAD-4.0.0 6.84899E-07
9708 11 R/G 14 rs1274452311 0.4405 None gnomAD-4.0.0 3.42508E-06
9708 11 R/K 14 None 0.4405 None gnomAD-4.0.0 6.84982E-07
9708 11 R/T 14 rs969965309 0.4405 None gnomAD-2.1.1 4.07E-06
9708 11 R/T 14 rs969965309 0.4405 None gnomAD-3.1.2 6.57E-06
9708 11 R/T 14 rs969965309 0.4405 None gnomAD-4.0.0 2.48124E-06
9709 12 V/I 16 rs369339313 0.1638 None gnomAD-2.1.1 1.08E-05
9709 12 V/I 16 rs369339313 0.1638 None gnomAD-3.1.2 2.63E-05
9709 12 V/I 16 rs369339313 0.1638 None gnomAD-4.0.0 1.55098E-05
9709 12 V/L 16 None 0.1638 None gnomAD-4.0.0 6.85064E-07
9710 13 V/E 18 rs1196573815 0.5457 None gnomAD-3.1.2 1.31E-05
9710 13 V/E 18 rs1196573815 0.5457 None gnomAD-4.0.0 1.31385E-05
9710 13 V/I 18 rs72649002 0.5457 None gnomAD-2.1.1 1.51403E-03
9710 13 V/I 18 rs72649002 0.5457 None gnomAD-3.1.2 1.01852E-03
9710 13 V/I 18 rs72649002 0.5457 None 1000 genomes 4.59265E-03
9710 13 V/I 18 rs72649002 0.5457 None gnomAD-4.0.0 5.45984E-04
9710 13 V/L 18 None 0.5457 None gnomAD-4.0.0 6.85181E-07
9711 14 E/Q 23 rs2075957760 0.4159 None gnomAD-3.1.2 6.57E-06
9711 14 E/Q 23 rs2075957760 0.4159 None gnomAD-4.0.0 2.02989E-06
9713 16 T/A 25 rs763317642 0.3015 None gnomAD-4.0.0 1.20032E-06
9714 17 T/A 26 None 0.3681 None gnomAD-4.0.0 1.60692E-06
9714 17 T/P 26 None 0.3681 None gnomAD-4.0.0 1.60692E-06
9715 18 A/E 28 None 0.1332 None gnomAD-4.0.0 1.37373E-06
9715 18 A/G 28 rs533172128 0.1332 None gnomAD-2.1.1 4.06E-05
9715 18 A/G 28 rs533172128 0.1332 None gnomAD-3.1.2 1.32E-05
9715 18 A/G 28 rs533172128 0.1332 None gnomAD-4.0.0 2.86075E-05
9715 18 A/P 28 rs1359943299 0.1332 None gnomAD-2.1.1 4.06E-06
9715 18 A/P 28 rs1359943299 0.1332 None gnomAD-4.0.0 1.60532E-06
9715 18 A/T 28 None 0.1332 None gnomAD-4.0.0 1.60532E-06
9715 18 A/V 28 rs533172128 0.1332 None gnomAD-2.1.1 2.44E-05
9715 18 A/V 28 rs533172128 0.1332 None gnomAD-3.1.2 6.58E-06
9715 18 A/V 28 rs533172128 0.1332 None gnomAD-4.0.0 9.32852E-06
9716 19 T/I 29 rs368642940 0.2915 None gnomAD-2.1.1 8.11E-06
9716 19 T/I 29 rs368642940 0.2915 None gnomAD-4.0.0 1.16751E-05
9717 20 F/S 30 None 0.1079 None gnomAD-4.0.0 2.40065E-06
9718 21 I/F 31 None 0.4176 None gnomAD-4.0.0 6.86504E-07
9718 21 I/S 31 rs4893852 0.4176 None gnomAD-2.1.1 1.21E-05
9718 21 I/S 31 rs4893852 0.4176 None gnomAD-3.1.2 3.29E-05
9718 21 I/S 31 rs4893852 0.4176 None gnomAD-4.0.0 2.05126E-05
9718 21 I/T 31 rs4893852 0.4176 None gnomAD-2.1.1 8.25144E-02
9718 21 I/T 31 rs4893852 0.4176 None gnomAD-3.1.2 9.38774E-02
9718 21 I/T 31 rs4893852 0.4176 None 1000 genomes 1.27396E-01
9718 21 I/T 31 rs4893852 0.4176 None gnomAD-4.0.0 5.01499E-02
9718 21 I/V 31 rs748067330 0.4176 None gnomAD-2.1.1 1.21E-05
9718 21 I/V 31 rs748067330 0.4176 None gnomAD-4.0.0 2.74602E-06
9719 22 A/T 33 rs2075926309 0.1133 None gnomAD-4.0.0 2.05944E-06
9720 23 K/E 34 rs780071353 0.2316 None gnomAD-2.1.1 8.08E-06
9720 23 K/E 34 rs780071353 0.2316 None gnomAD-4.0.0 8.00869E-06
9721 24 V/F 35 None 0.1527 None gnomAD-4.0.0 1.20032E-06
9722 25 G/R 38 rs758659809 0.1503 None gnomAD-2.1.1 7.16E-06
9722 25 G/R 38 rs758659809 0.1503 None gnomAD-3.1.2 6.57E-06
9722 25 G/R 38 rs758659809 0.1503 None gnomAD-4.0.0 7.45356E-06
9723 26 G/D 40 rs1416686981 0.2443 None gnomAD-2.1.1 4.03E-06
9723 26 G/D 40 rs1416686981 0.2443 None gnomAD-4.0.0 1.5994E-06
9724 27 D/A 41 None 0.8906 None gnomAD-4.0.0 1.59494E-06
9724 27 D/N 41 rs778955269 0.8906 None gnomAD-2.1.1 1.61E-05
9724 27 D/N 41 rs778955269 0.8906 None gnomAD-3.1.2 6.57E-06
9724 27 D/N 41 rs778955269 0.8906 None gnomAD-4.0.0 6.2033E-06
9726 29 I/T 43 None 0.6315 None gnomAD-4.0.0 1.20032E-06
9726 29 I/V 43 rs757364697 0.6315 None gnomAD-2.1.1 5E-05
9726 29 I/V 43 rs757364697 0.6315 None gnomAD-3.1.2 6.57E-06
9726 29 I/V 43 rs757364697 0.6315 None gnomAD-4.0.0 1.92384E-05
9727 30 P/L 44 None 0.1434 None gnomAD-4.0.0 1.369E-06
9727 30 P/S 44 None 0.1434 None gnomAD-4.0.0 1.20032E-06
9728 31 N/D 45 rs794729400 0.5372 None gnomAD-2.1.1 1.43E-05
9728 31 N/D 45 rs794729400 0.5372 None gnomAD-3.1.2 3.94E-05
9728 31 N/D 45 rs794729400 0.5372 None gnomAD-4.0.0 1.61162E-05
9728 31 N/S 45 rs374981132 0.5372 None gnomAD-2.1.1 3.62E-05
9728 31 N/S 45 rs374981132 0.5372 None gnomAD-3.1.2 6.57E-06
9728 31 N/S 45 rs374981132 0.5372 None gnomAD-4.0.0 2.04544E-05
9728 31 N/Y 45 rs794729400 0.5372 None gnomAD-2.1.1 4.02E-06
9728 31 N/Y 45 rs794729400 0.5372 None gnomAD-4.0.0 6.84414E-07
9729 32 V/F 46 rs1060500451 0.2047 None gnomAD-3.1.2 6.57E-06
9729 32 V/F 46 rs1060500451 0.2047 None gnomAD-4.0.0 1.23966E-06
9729 32 V/I 46 rs1060500451 0.2047 None gnomAD-3.1.2 6.57E-06
9729 32 V/I 46 rs1060500451 0.2047 None gnomAD-4.0.0 1.17768E-05
9731 34 W/R 48 rs1226902114 0.1540 None gnomAD-2.1.1 8.03E-06
9731 34 W/R 48 rs1226902114 0.1540 None gnomAD-3.1.2 6.57E-06
9731 34 W/R 48 rs1226902114 0.1540 None gnomAD-4.0.0 3.18342E-06
9734 37 G/R 51 None 0.3665 None gnomAD-4.0.0 1.20032E-06
9735 38 K/N 52 rs760884958 0.9185 None gnomAD-2.1.1 4.01E-06
9735 38 K/N 52 rs760884958 0.9185 None gnomAD-4.0.0 6.84189E-07
9736 39 W/G 53 rs1229199576 1.0292 None gnomAD-2.1.1 4.01E-06
9736 39 W/G 53 rs1229199576 1.0292 None gnomAD-4.0.0 1.59121E-06
9738 41 Q/R 56 rs1370390355 0.4904 None gnomAD-2.1.1 4.01E-06
9738 41 Q/R 56 rs1370390355 0.4904 None gnomAD-4.0.0 1.59106E-06
9739 42 L/P 58 None 0.2075 None gnomAD-4.0.0 1.20032E-06
9740 43 N/K 59 rs371745586 0.7575 None gnomAD-2.1.1 4.01E-06
9740 43 N/K 59 rs371745586 0.7575 None gnomAD-3.1.2 1.31E-05
9740 43 N/K 59 rs371745586 0.7575 None gnomAD-4.0.0 2.05252E-06
9740 43 N/S 59 rs753121692 0.7575 None gnomAD-2.1.1 3.92E-05
9740 43 N/S 59 rs753121692 0.7575 None gnomAD-3.1.2 1.97E-05
9740 43 N/S 59 rs753121692 0.7575 None gnomAD-4.0.0 6.07259E-05
9740 43 N/T 59 None 0.7575 None gnomAD-4.0.0 6.84175E-07
9741 44 Q/H 70 None 0.7474 None gnomAD-4.0.0 1.59103E-06
9741 44 Q/K 70 rs773039731 0.7474 None gnomAD-2.1.1 2.14E-05
9741 44 Q/K 70 rs773039731 0.7474 None gnomAD-3.1.2 1.32E-05
9741 44 Q/K 70 rs773039731 0.7474 None gnomAD-4.0.0 8.96769E-06
9742 45 G/A 73 rs1461138247 0.4237 None gnomAD-4.0.0 1.59103E-06
9742 45 G/E 73 rs1461138247 0.4237 None gnomAD-2.1.1 7.13E-06
9742 45 G/E 73 rs1461138247 0.4237 None gnomAD-3.1.2 6.57E-06
9742 45 G/E 73 rs1461138247 0.4237 None gnomAD-4.0.0 2.5619E-06
9743 46 G/D 109 None 0.6201 None gnomAD-4.0.0 3.18201E-06
9743 46 G/S 109 rs368073588 0.6201 None gnomAD-2.1.1 2.41E-05
9743 46 G/S 109 rs368073588 0.6201 None gnomAD-3.1.2 6.57E-06
9743 46 G/S 109 rs368073588 0.6201 None gnomAD-4.0.0 1.92092E-05
9744 47 R/C 115 rs375266859 0.2807 None gnomAD-2.1.1 5.35E-05
9744 47 R/C 115 rs375266859 0.2807 None gnomAD-3.1.2 5.26E-05
9744 47 R/C 115 rs375266859 0.2807 None gnomAD-4.0.0 4.27588E-05
9744 47 R/G 115 rs375266859 0.2807 None gnomAD-4.0.0 6.84162E-07
9744 47 R/H 115 rs760305440 0.2807 None gnomAD-2.1.1 1.78E-05
9744 47 R/H 115 rs760305440 0.2807 None gnomAD-3.1.2 5.26E-05
9744 47 R/H 115 rs760305440 0.2807 HCM
Literature None
9744 47 R/H 115 rs760305440 0.2807 None gnomAD-4.0.0 5.26723E-05
9745 48 V/I 121 rs879159098 0.2268 None gnomAD-4.0.0 1.36833E-06
9746 49 F/S 122 None 0.3519 None gnomAD-4.0.0 1.20032E-06
9748 51 H/N 125 None 0.5908 None gnomAD-4.0.0 1.20032E-06
9750 53 K/N 130 None 0.8143 None gnomAD-4.0.0 1.20032E-06
9751 54 G/V 131 rs779884658 0.3635 None gnomAD-2.1.1 1.2E-05
9751 54 G/V 131 rs779884658 0.3635 None gnomAD-4.0.0 8.89413E-06
9752 55 D/E 134 None 0.3720 None gnomAD-4.0.0 6.84157E-07
9752 55 D/N 134 rs1420103092 0.3720 None gnomAD-2.1.1 6.37E-05
9752 55 D/N 134 rs1420103092 0.3720 None gnomAD-3.1.2 3.29E-05
9752 55 D/N 134 rs1420103092 0.3720 None gnomAD-4.0.0 1.61111E-05
9752 55 D/Y 134 None 0.3720 None gnomAD-4.0.0 6.84159E-07
9753 56 E/D 135 None 0.3871 None gnomAD-4.0.0 1.59096E-06
9755 58 K/Q 137 None 0.2909 None gnomAD-4.0.0 1.59098E-06
9757 60 E/Q 139 None 0.2342 None gnomAD-4.0.0 1.59097E-06
9758 61 I/S 140 None 0.1342 None gnomAD-4.0.0 2.05247E-06
9758 61 I/V 140 None 0.1342 None gnomAD-4.0.0 1.59097E-06
9760 63 D/H 143 rs372537023 0.6238 None gnomAD-2.1.1 1.2E-05
9760 63 D/H 143 rs372537023 0.6238 None gnomAD-3.1.2 6.57E-06
9760 63 D/H 143 rs372537023 0.6238 None gnomAD-4.0.0 1.05344E-05
9760 63 D/N 143 rs372537023 0.6238 None gnomAD-2.1.1 8.02E-06
9760 63 D/N 143 rs372537023 0.6238 None gnomAD-4.0.0 8.20987E-06
9760 63 D/Y 143 None 0.6238 None gnomAD-4.0.0 8.89402E-06
9761 64 T/A 144 rs757275707 0.0912 None gnomAD-2.1.1 4.01E-06
9761 64 T/A 144 rs757275707 0.0912 None gnomAD-4.0.0 1.59097E-06
9761 64 T/S 144 rs753921516 0.0912 None gnomAD-2.1.1 8.02E-06
9761 64 T/S 144 rs753921516 0.0912 None gnomAD-4.0.0 3.18199E-06
9762 65 T/I 145 rs1347223686 0.2676 None gnomAD-2.1.1 1.2E-05
9762 65 T/I 145 rs1347223686 0.2676 None gnomAD-4.0.0 2.73664E-06
9762 65 T/K 145 None 0.2676 None gnomAD-4.0.0 1.36832E-06
9762 65 T/R 145 None 0.2676 None gnomAD-4.0.0 6.84159E-07
9763 66 K/E 146 rs1414221406 0.8707 None gnomAD-4.0.0 1.59099E-06
9763 66 K/N 146 rs1301356747 0.8707 None gnomAD-2.1.1 4.01E-06
9763 66 K/N 146 rs1301356747 0.8707 None gnomAD-4.0.0 3.18214E-06
9764 67 T/I 148 None 0.6655 None gnomAD-4.0.0 2.40064E-06
9764 67 T/S 148 None 0.6655 None gnomAD-4.0.0 1.36834E-06
9765 68 D/G 149 None 0.1755 None gnomAD-4.0.0 1.591E-06
9766 69 S/Y 151 rs879033462 0.2112 None gnomAD-4.0.0 1.20032E-06
9767 70 G/R 152 None 0.2276 None gnomAD-4.0.0 1.59098E-06
9767 70 G/V 152 rs2075906507 0.2276 None gnomAD-3.1.2 6.58E-06
9767 70 G/V 152 rs2075906507 0.2276 None gnomAD-4.0.0 6.57678E-06
9768 71 L/F 153 None 0.4601 None gnomAD-4.0.0 1.20032E-06
9769 72 Y/H 154 rs778087108 0.1254 None gnomAD-2.1.1 1.07E-05
9769 72 Y/H 154 rs778087108 0.1254 None gnomAD-3.1.2 6.57E-06
9769 72 Y/H 154 rs778087108 0.1254 None gnomAD-4.0.0 3.09822E-06
9770 73 R/L 155 None 0.2930 None gnomAD-4.0.0 6.84163E-07
9770 73 R/Q 155 rs368309068 0.2930 None gnomAD-2.1.1 5.22E-05
9770 73 R/Q 155 rs368309068 0.2930 None gnomAD-3.1.2 6.57E-05
9770 73 R/Q 155 rs368309068 0.2930 None gnomAD-4.0.0 8.05513E-05
9772 75 V/A 157 None 0.1747 None gnomAD-4.0.0 6.84163E-07
9772 75 V/E 157 rs1430077040 0.1747 None gnomAD-2.1.1 4.01E-06
9772 75 V/E 157 rs1430077040 0.1747 None gnomAD-4.0.0 6.84163E-07
9772 75 V/M 157 rs563073635 0.1747 None gnomAD-2.1.1 5.7E-05
9772 75 V/M 157 rs563073635 0.1747 None gnomAD-3.1.2 6.57E-05
9772 75 V/M 157 rs563073635 0.1747 None 1000 genomes 3.99361E-04
9772 75 V/M 157 rs563073635 0.1747 None gnomAD-4.0.0 4.89506E-05
9773 76 A/S 158 None 0.0900 None gnomAD-4.0.0 6.84166E-07
9773 76 A/T 158 rs371163094 0.0900 None gnomAD-2.1.1 8.55E-05
9773 76 A/T 158 rs371163094 0.0900 None gnomAD-3.1.2 8.55E-05
9773 76 A/T 158 rs371163094 0.0900 None gnomAD-4.0.0 3.01159E-04
9773 76 A/V 158 None 0.0900 None gnomAD-4.0.0 2.73667E-06
9774 77 F/C 159 rs2075902617 0.2424 None gnomAD-3.1.2 6.58E-06
9774 77 F/C 159 rs2075902617 0.2424 None gnomAD-4.0.0 6.57575E-06
9776 79 E/D 162 None 0.6198 None gnomAD-4.0.0 1.20032E-06
9776 79 E/K 162 rs143477225 0.6198 None gnomAD-2.1.1 3.61E-05
9776 79 E/K 162 rs143477225 0.6198 None 1000 genomes 1.99681E-04
9776 79 E/K 162 rs143477225 0.6198 None gnomAD-4.0.0 2.16879E-05
9776 79 E/Q 162 None 0.6198 None gnomAD-4.0.0 6.84195E-07
9777 80 H/R 163 rs776520121 0.7168 None gnomAD-2.1.1 4.01E-06
9777 80 H/R 163 rs776520121 0.7168 None gnomAD-4.0.0 6.1577E-06
9778 81 G/A 164 rs775854531 0.3175 None gnomAD-2.1.1 2.81E-05
9778 81 G/A 164 rs775854531 0.3175 None gnomAD-4.0.0 4.78931E-06
9778 81 G/D 164 rs775854531 0.3175 None gnomAD-2.1.1 1.2E-05
9778 81 G/D 164 rs775854531 0.3175 None gnomAD-3.1.2 6.57E-06
9778 81 G/D 164 rs775854531 0.3175 None gnomAD-4.0.0 2.045E-05
9778 81 G/S 164 rs1181765627 0.3175 None gnomAD-2.1.1 4.01E-06
9778 81 G/S 164 rs1181765627 0.3175 None gnomAD-4.0.0 6.84173E-06
9780 83 I/F 166 rs916661752 0.1935 None gnomAD-4.0.0 3.18216E-06
9780 83 I/T 166 None 0.1935 None gnomAD-4.0.0 1.20032E-06
9783 86 N/I 171 rs1254488322 0.4349 None gnomAD-2.1.1 4.01E-06
9783 86 N/I 171 rs1254488322 0.4349 None gnomAD-4.0.0 1.36835E-06
9783 86 N/K 171 rs1183091830 0.4349 None gnomAD-3.1.2 6.57E-06
9783 86 N/K 171 rs1183091830 0.4349 None gnomAD-4.0.0 6.19684E-06
9784 87 V/I 172 rs2075899130 0.1084 None gnomAD-4.0.0 2.05255E-06
9786 89 L/F 174 rs2075898399 0.0970 None gnomAD-3.1.2 6.57E-06
9786 89 L/F 174 rs2075898399 0.0970 None gnomAD-4.0.0 6.57082E-06
9787 90 Q/R 175 None 0.2766 None gnomAD-4.0.0 1.59115E-06
9788 91 V/G 177 rs776218040 0.1315 None gnomAD-2.1.1 4.02E-06
9788 91 V/G 177 rs776218040 0.1315 None gnomAD-3.1.2 6.58E-06
9788 91 V/G 177 rs776218040 0.1315 None gnomAD-4.0.0 2.5627E-06
9788 91 V/M 177 rs2075898063 0.1315 None gnomAD-4.0.0 1.59116E-06