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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21757 1 P/S 1 rs1166497792 0.9977 None gnomAD-3.1.2 6.58E-06
21757 1 P/S 1 rs1166497792 0.9977 None gnomAD-4.0.0 1.53155E-05
21757 1 P/T 1 rs1166497792 0.9977 None gnomAD-3.1.2 1.32E-05
21757 1 P/T 1 rs1166497792 0.9977 None gnomAD-4.0.0 4.17695E-06
21758 2 V/A 2 None 0.1579 None gnomAD-4.0.0 1.76645E-06
21758 2 V/F 2 rs1394549346 0.1579 None gnomAD-3.1.2 6.58E-06
21758 2 V/F 2 rs1394549346 0.1579 None gnomAD-4.0.0 1.93389E-06
21759 3 D/E 3 None 0.2906 None gnomAD-4.0.0 7.11632E-07
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-2.1.1 5.32E-06
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-3.1.2 6.58E-06
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-4.0.0 3.2175E-06
21759 3 D/V 3 rs775903390 0.2906 None gnomAD-2.1.1 5.32E-05
21760 4 P/L 4 rs1236566550 0.3169 None gnomAD-4.0.0 4.96751E-06
21760 4 P/R 4 None 0.3169 None gnomAD-4.0.0 7.09636E-07
21760 4 P/T 4 None 0.3169 None gnomAD-4.0.0 2.85383E-06
21761 5 P/S 5 rs762680180 0.1205 None gnomAD-2.1.1 1.98E-05
21761 5 P/S 5 rs762680180 0.1205 None gnomAD-4.0.0 1.13205E-05
21762 6 G/R 6 rs772939753 0.2191 None gnomAD-2.1.1 1.93E-05
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-2.1.1 4.71E-06
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-3.1.2 6.58E-06
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-4.0.0 6.57713E-06
21763 7 K/Q 7 None 0.3014 None gnomAD-4.0.0 7.03354E-07
21763 7 K/T 7 None 0.3014 None gnomAD-4.0.0 1.20032E-06
21765 9 E/A 11 rs1430045391 0.6941 None gnomAD-2.1.1 4.49E-06
21765 9 E/A 11 rs1430045391 0.6941 None gnomAD-4.0.0 6.98304E-06
21766 10 V/F 12 None 0.3296 None gnomAD-4.0.0 1.66925E-06
21767 11 I/T 13 rs762578274 0.3787 None gnomAD-2.1.1 2.31E-05
21767 11 I/T 13 rs762578274 0.3787 None gnomAD-3.1.2 1.97E-05
21767 11 I/T 13 rs762578274 0.3787 None gnomAD-4.0.0 3.26701E-05
21768 12 D/A 14 rs1171277318 0.3115 None gnomAD-2.1.1 4.38E-06
21768 12 D/A 14 rs1171277318 0.3115 None gnomAD-4.0.0 1.64911E-06
21768 12 D/H 14 rs896934140 0.3115 None gnomAD-4.0.0 1.38996E-06
21768 12 D/N 14 None 0.3115 None gnomAD-4.0.0 6.94979E-07
21768 12 D/Y 14 None 0.3115 None gnomAD-4.0.0 6.94981E-07
21769 13 V/I 15 rs1426502571 0.1898 None gnomAD-2.1.1 4.35E-06
21769 13 V/I 15 rs1426502571 0.1898 None gnomAD-4.0.0 1.64784E-06
21770 14 T/S 16 None 0.2918 None gnomAD-4.0.0 1.63093E-06
21772 16 S/I 18 None 0.3477 None gnomAD-4.0.0 6.90467E-07
21772 16 S/N 18 rs768613983 0.3477 None gnomAD-2.1.1 8.5E-06
21772 16 S/N 18 rs768613983 0.3477 None gnomAD-4.0.0 4.83327E-06
21774 18 V/A 20 None 0.0921 None gnomAD-4.0.0 3.60097E-06
21775 19 S/F 21 None 0.1837 None gnomAD-4.0.0 4.8259E-06
21775 19 S/T 21 rs2048324718 0.1837 None gnomAD-4.0.0 1.60846E-06
21776 20 L/M 22 None 0.0976 None gnomAD-4.0.0 1.60625E-06
21777 21 I/M 23 rs779897187 0.2165 None gnomAD-2.1.1 4.17E-06
21777 21 I/M 23 rs779897187 0.2165 None gnomAD-4.0.0 1.60484E-06
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-2.1.1 1.47E-05
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-3.1.2 1.32E-05
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-4.0.0 8.70395E-06
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-2.1.1 1.47E-05
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-3.1.2 6.58E-06
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-4.0.0 1.30546E-05
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-2.1.1 1.66E-05
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-3.1.2 6.58E-06
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-4.0.0 1.05671E-05
21783 27 H/R 29 rs1223104137 0.6361 None gnomAD-3.1.2 6.57E-06
21783 27 H/R 29 rs1223104137 0.6361 None gnomAD-4.0.0 3.86359E-06
21785 29 G/E 31 None 0.3964 None gnomAD-4.0.0 1.20032E-06
21786 30 G/C 32 None 0.6346 None gnomAD-4.0.0 6.86059E-07
21787 31 S/N 33 rs1290046297 0.3838 None gnomAD-3.1.2 6.58E-06
21787 31 S/N 33 rs1290046297 0.3838 None gnomAD-4.0.0 6.57661E-06
21788 32 K/I 34 None 0.9551 None gnomAD-4.0.0 2.40064E-06
21788 32 K/N 34 None 0.9551 None gnomAD-4.0.0 3.20148E-06
21788 32 K/T 34 rs1330714909 0.9551 None gnomAD-3.1.2 1.32E-05
21788 32 K/T 34 rs1330714909 0.9551 None gnomAD-4.0.0 1.31546E-05
21789 33 I/T 35 rs2048319290 0.1748 None gnomAD-4.0.0 1.12037E-05
21789 33 I/V 35 None 0.1748 None gnomAD-4.0.0 1.60089E-06
21790 34 I/M 36 rs764130758 0.2642 None gnomAD-2.1.1 4.13E-06
21790 34 I/M 36 rs764130758 0.2642 None gnomAD-4.0.0 1.60047E-06
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-2.1.1 1.24E-05
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-3.1.2 1.32E-05
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-4.0.0 1.1584E-05
21791 35 G/C 37 None 0.0740 None gnomAD-4.0.0 4.80176E-06
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-2.1.1 2.19E-05
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-3.1.2 3.95E-05
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-4.0.0 6.21193E-05
21792 36 Y/C 38 None 0.0751 None gnomAD-4.0.0 7.20193E-06
21794 38 V/A 40 rs2154179261 0.0969 None gnomAD-4.0.0 2.05753E-06
21794 38 V/I 40 None 0.0969 None gnomAD-2.1.1 2.19E-05
21794 38 V/I 40 None 0.0969 None gnomAD-3.1.2 2.63E-05
21794 38 V/I 40 None 0.0969 None gnomAD-4.0.0 2.67106E-05
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-2.1.1 1.46E-05
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-3.1.2 6.58E-06
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-4.0.0 6.85958E-07
21796 40 A/V 42 rs752002587 0.1213 None gnomAD-2.1.1 4.12E-06
21796 40 A/V 42 rs752002587 0.1213 None gnomAD-4.0.0 1.60002E-06
21797 41 C/F 43 rs886042894 0.0820 None gnomAD-4.0.0 4.80084E-06
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-2.1.1 6.17E-05
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-3.1.2 5.92E-05
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-4.0.0 5.15397E-05
21797 41 C/Y 43 rs886042894 0.0820 None gnomAD-4.0.0 2.0575E-06
21798 42 K/T 44 rs776173264 0.3192 None gnomAD-2.1.1 4.11E-06
21799 43 L/P 50 rs1260259069 0.3242 None gnomAD-2.1.1 4.1E-06
21799 43 L/P 50 rs1260259069 0.3242 None gnomAD-4.0.0 1.59838E-06
21799 43 L/R 50 None 0.3242 None gnomAD-4.0.0 3.19676E-06
21800 44 P/S 54 rs760650311 0.9836 None gnomAD-4.0.0 2.74218E-06
21800 44 P/T 54 rs760650311 0.9836 None gnomAD-2.1.1 8.21E-06
21800 44 P/T 54 rs760650311 0.9836 None gnomAD-4.0.0 2.74218E-06
21801 45 G/D 60 None 0.4021 None gnomAD-4.0.0 1.59823E-06
21802 46 D/E 63 rs1228795197 0.9709 None gnomAD-2.1.1 4.1E-06
21802 46 D/E 63 rs1228795197 0.9709 None gnomAD-4.0.0 1.59782E-06
21803 47 K/R 64 None 0.7826 None gnomAD-4.0.0 1.20032E-06
21803 47 K/T 64 rs2048309985 0.7826 None gnomAD-3.1.2 6.58E-06
21803 47 K/T 64 rs2048309985 0.7826 None gnomAD-4.0.0 6.57549E-06
21804 48 W/C 65 None 0.2672 None gnomAD-4.0.0 3.19517E-06
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-2.1.1 2.86E-05
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-3.1.2 6.58E-06
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-4.0.0 6.8532E-07
21805 49 V/E 66 None 0.5715 None gnomAD-4.0.0 2.40064E-06
21805 49 V/I 66 None 0.5715 None gnomAD-4.0.0 1.597E-06
21806 50 R/P 67 rs771120053 0.3444 None gnomAD-4.0.0 6.85245E-07
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-2.1.1 1.22E-05
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-3.1.2 6.58E-06
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-4.0.0 5.58548E-06
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-2.1.1 8.33E-05
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-3.1.2 8.55E-05
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-4.0.0 8.81411E-05
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-2.1.1 3.19E-05
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-3.1.2 6.58E-06
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-4.0.0 3.72331E-06
21807 51 C/Y 68 rs749514907 0.2593 None gnomAD-2.1.1 1.22E-05
21807 51 C/Y 68 rs749514907 0.2593 None gnomAD-4.0.0 4.79661E-06
21808 52 N/D 69 rs1160479149 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/D 69 rs1160479149 0.1098 None gnomAD-4.0.0 2.05526E-06
21808 52 N/H 69 rs1160479149 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/H 69 rs1160479149 0.1098 None gnomAD-4.0.0 6.85088E-07
21808 52 N/S 69 rs777905598 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/S 69 rs777905598 0.1098 None gnomAD-4.0.0 1.59598E-06
21809 53 T/I 70 rs756088419 0.8684 None gnomAD-2.1.1 8.14E-06
21809 53 T/I 70 rs756088419 0.8684 None gnomAD-4.0.0 1.37023E-06
21809 53 T/N 70 None 0.8684 None gnomAD-3.1.2 6.58E-06
21809 53 T/N 70 None 0.8684 None gnomAD-4.0.0 1.86144E-06
21809 53 T/S 70 rs756088419 0.8684 None gnomAD-2.1.1 4.07E-06
21809 53 T/S 70 rs756088419 0.8684 None gnomAD-4.0.0 1.37023E-06
21810 54 A/P 72 None 0.1517 None gnomAD-4.0.0 6.85079E-07
21810 54 A/T 72 rs752825084 0.1517 None gnomAD-2.1.1 4.07E-06
21810 54 A/T 72 rs752825084 0.1517 None gnomAD-4.0.0 6.85079E-07
21810 54 A/V 72 rs2048304433 0.1517 None gnomAD-3.1.2 6.58E-06
21810 54 A/V 72 rs2048304433 0.1517 None gnomAD-4.0.0 1.24088E-06
21811 55 P/S 73 rs1424664692 0.0989 None gnomAD-2.1.1 4.06E-06
21811 55 P/S 73 rs1424664692 0.0989 None gnomAD-4.0.0 1.37006E-06
21812 56 H/N 74 rs267599042 0.5463 None gnomAD-2.1.1 4.06E-06
21812 56 H/N 74 rs267599042 0.5463 None gnomAD-4.0.0 3.19077E-06
21814 58 I/T 77 rs781750612 0.0640 None gnomAD-2.1.1 4.05E-06
21816 60 Q/L 88 None 0.6592 None gnomAD-4.0.0 6.84874E-07
21817 61 E/K 89 rs751947173 0.1524 None gnomAD-2.1.1 1.08E-05
21817 61 E/K 89 rs751947173 0.1524 None gnomAD-3.1.2 6.58E-06
21817 61 E/K 89 rs751947173 0.1524 None gnomAD-4.0.0 2.48111E-06
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-2.1.1 9.87908E-04
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-3.1.2 7.82462E-04
21820 64 T/I 92 rs56130023 0.3435 None 1000 genomes 1.19808E-03
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-4.0.0 5.99741E-04
21821 65 A/P 93 None 0.0947 None gnomAD-4.0.0 1.59462E-06
21821 65 A/T 93 rs2048299727 0.0947 None gnomAD-4.0.0 1.59462E-06
21821 65 A/V 93 rs1398162885 0.0947 None gnomAD-3.1.2 6.58E-06
21821 65 A/V 93 rs1398162885 0.0947 None gnomAD-4.0.0 6.09034E-06
21823 67 G/D 96 None 0.5339 None gnomAD-4.0.0 1.59466E-06
21826 70 E/K 99 rs763824247 0.4659 None gnomAD-2.1.1 4.04E-06
21826 70 E/K 99 rs763824247 0.4659 None gnomAD-4.0.0 3.18899E-06
21827 71 K/Q 100 None 0.7103 None gnomAD-4.0.0 1.59444E-06
21828 72 A/G 102 None 0.1472 None gnomAD-4.0.0 6.84825E-06
21828 72 A/T 102 rs1294321352 0.1472 None gnomAD-4.0.0 1.59466E-06
21828 72 A/V 102 None 0.1472 None gnomAD-4.0.0 6.84825E-07
21829 73 Q/E 103 None 0.3839 None gnomAD-4.0.0 1.36967E-06
21829 73 Q/R 103 rs886038921 0.3839 None gnomAD-2.1.1 8.09E-06
21829 73 Q/R 103 rs886038921 0.3839 None gnomAD-4.0.0 3.18916E-06
21832 76 F/L 106 rs1366676743 0.1202 None gnomAD-2.1.1 1.21E-05
21832 76 F/L 106 rs1366676743 0.1202 None gnomAD-4.0.0 3.18942E-06
21832 76 F/S 106 None 0.1202 None gnomAD-4.0.0 1.20032E-06
21833 77 R/T 107 None 0.1490 None gnomAD-4.0.0 1.59485E-06
21834 78 A/G 108 None 0.0835 None gnomAD-4.0.0 6.84853E-07
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-2.1.1 8.09E-06
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-3.1.2 6.58E-06
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-4.0.0 1.4266E-05
21834 78 A/V 108 rs878949081 0.0835 None gnomAD-2.1.1 8.09E-06
21834 78 A/V 108 rs878949081 0.0835 None gnomAD-4.0.0 4.79397E-06
21836 80 A/V 110 None 0.0925 None gnomAD-4.0.0 6.84941E-07
21837 81 R/W 111 rs2048289282 0.2041 None gnomAD-3.1.2 6.57E-06
21837 81 R/W 111 rs2048289282 0.2041 None gnomAD-4.0.0 6.57428E-06
21838 82 T/N 112 rs1458673199 0.0988 None gnomAD-2.1.1 4.04E-06
21838 82 T/N 112 rs1458673199 0.0988 None gnomAD-4.0.0 1.595E-06
21839 83 A/E 113 None 0.5861 None gnomAD-4.0.0 1.36988E-06
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-2.1.1 6.82E-05
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-3.1.2 8.55E-05
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-4.0.0 5.64476E-05
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-2.1.1 4.4563E-03
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-3.1.2 1.22502E-02
21839 83 A/V 113 rs55948748 0.5861 None 1000 genomes 1.41773E-02
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-4.0.0 2.49612E-03
21840 84 V/E 114 None 0.7278 None gnomAD-4.0.0 1.59513E-06
21840 84 V/I 114 rs770780646 0.7278 None gnomAD-2.1.1 1.21E-05
21840 84 V/I 114 rs770780646 0.7278 None gnomAD-3.1.2 6.58E-06
21840 84 V/I 114 rs770780646 0.7278 None gnomAD-4.0.0 3.72184E-06
21840 84 V/L 114 rs770780646 0.7278 None gnomAD-3.1.2 6.58E-06
21840 84 V/L 114 rs770780646 0.7278 None gnomAD-4.0.0 6.57601E-06
21842 86 I/T 117 None 0.4475 None gnomAD-4.0.0 1.36998E-06
21843 87 S/G 118 None 0.1077 None gnomAD-4.0.0 6.00162E-06
21843 87 S/N 118 rs2154179160 0.1077 None gnomAD-4.0.0 1.59594E-06
21843 87 S/R 118 None 0.1077 None gnomAD-4.0.0 6.8508E-07
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-2.1.1 4.78022E-04
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-3.1.2 2.63026E-04
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-4.0.0 2.5878E-04
21846 90 S/P 121 None 0.1048 None gnomAD-4.0.0 1.20032E-06
21848 92 P/L 123 rs1559520585 0.3807 None gnomAD-4.0.0 1.37214E-06
21848 92 P/T 123 None 0.3807 None gnomAD-4.0.0 1.59783E-06
21849 93 S/F 124 rs1060500465 0.1092 None gnomAD-4.0.0 3.20569E-06
21850 94 D/N 125 rs2048279657 0.6805 None gnomAD-4.0.0 1.60414E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-2.1.1 8.14E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-3.1.2 6.58E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-4.0.0 2.48629E-06
21851 95 P/T 126 None 0.4436 None gnomAD-4.0.0 6.86624E-07
21854 98 I/L 130 None 0.0657 None gnomAD-4.0.0 6.89351E-07
21854 98 I/V 130 None 0.0657 None gnomAD-4.0.0 6.89351E-07
21856 100 A/T 132 rs752176305 0.3871 None gnomAD-2.1.1 6.66E-05
21856 100 A/T 132 rs752176305 0.3871 None gnomAD-3.1.2 3.29E-05
21856 100 A/T 132 rs752176305 0.3871 None gnomAD-4.0.0 2.12921E-05
21856 100 A/V 132 rs1303979451 0.3871 None gnomAD-2.1.1 4.15E-06
21856 100 A/V 132 rs1303979451 0.3871 None gnomAD-4.0.0 2.76665E-06