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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7702 1 P/S 1 None 0.1585 None gnomAD-4.0.0 7.00126E-07
7703 2 V/I 2 rs1318077959 0.4878 None gnomAD-2.1.1 4.56E-06
7703 2 V/I 2 rs1318077959 0.4878 None gnomAD-4.0.0 3.34496E-06
7704 3 F/L 3 rs2078208221 0.1346 None gnomAD-4.0.0 1.6605E-06
7705 4 T/I 4 rs772162626 0.4759 None gnomAD-2.1.1 3.1E-05
7705 4 T/I 4 rs772162626 0.4759 None gnomAD-3.1.2 6.58E-06
7705 4 T/I 4 rs772162626 0.4759 None gnomAD-4.0.0 1.00511E-05
7705 4 T/S 4 rs772162626 0.4759 None gnomAD-3.1.2 1.32E-05
7705 4 T/S 4 rs772162626 0.4759 None gnomAD-4.0.0 2.51278E-06
7706 5 Q/R 5 None 0.4328 None gnomAD-4.0.0 4.80129E-06
7707 6 K/R 7 None 0.5388 None gnomAD-4.0.0 2.40064E-06
7708 7 P/L 8 None 0.2454 None gnomAD-4.0.0 1.38223E-06
7708 7 P/T 8 None 0.2454 None gnomAD-4.0.0 1.63565E-06
7710 9 P/L 11 None 0.6054 None gnomAD-4.0.0 6.88837E-07
7710 9 P/S 11 rs1157011296 0.6054 None gnomAD-4.0.0 1.37752E-06
7711 10 V/A 13 None 0.3362 None gnomAD-4.0.0 1.60995E-06
7711 10 V/L 13 rs771533917 0.3362 None gnomAD-2.1.1 1.67E-05
7711 10 V/L 13 rs771533917 0.3362 None gnomAD-4.0.0 3.4435E-06
7712 11 G/R 14 None 0.2024 None gnomAD-4.0.0 2.06262E-06
7713 12 A/T 16 rs778331160 0.1535 None gnomAD-2.1.1 1.24E-05
7713 12 A/T 16 rs778331160 0.1535 None gnomAD-4.0.0 4.82194E-06
7715 14 K/E 23 None 0.6850 None gnomAD-4.0.0 1.59966E-06
7715 14 K/T 23 None 0.6850 None gnomAD-4.0.0 1.60001E-06
7716 15 G/A 24 rs751284978 0.2729 None gnomAD-3.1.2 6.58E-06
7716 15 G/A 24 rs751284978 0.2729 None gnomAD-4.0.0 5.58747E-06
7716 15 G/C 24 rs2154300766 0.2729 None gnomAD-4.0.0 1.59916E-06
7716 15 G/D 24 None 0.2729 None gnomAD-2.1.1 2.17E-05
7716 15 G/D 24 None 0.2729 None gnomAD-3.1.2 8.55E-05
7716 15 G/D 24 None 0.2729 None gnomAD-4.0.0 2.17306E-05
7716 15 G/V 24 rs751284978 0.2729 None gnomAD-2.1.1 1.63E-05
7716 15 G/V 24 rs751284978 0.2729 None gnomAD-4.0.0 7.54165E-06
7718 17 D/G 26 rs1216947854 0.5641 None gnomAD-2.1.1 4.05E-06
7718 17 D/G 26 rs1216947854 0.5641 None gnomAD-4.0.0 4.10825E-06
7718 17 D/N 26 None 0.5641 None gnomAD-4.0.0 6.84766E-07
7720 19 I/V 29 rs757989250 0.4589 None gnomAD-2.1.1 8.08E-06
7720 19 I/V 29 rs757989250 0.4589 None gnomAD-4.0.0 4.77815E-06
7722 21 Q/R 31 None 0.5464 None gnomAD-4.0.0 1.59252E-06
7723 22 C/R 33 rs2078198396 0.0874 None gnomAD-4.0.0 1.36887E-06
7723 22 C/Y 33 None 0.0874 None gnomAD-4.0.0 1.20032E-06
7724 23 E/A 34 rs750019682 0.3035 None gnomAD-2.1.1 4.03E-06
7724 23 E/A 34 rs750019682 0.3035 None gnomAD-4.0.0 1.59243E-06
7725 24 I/M 35 rs1270184889 0.0893 None gnomAD-4.0.0 1.59241E-06
7725 24 I/T 35 None 0.0893 None gnomAD-4.0.0 1.20033E-06
7726 25 S/L 38 rs17452588 0.2730 None gnomAD-2.1.1 7.25853E-03
7726 25 S/L 38 rs17452588 0.2730 None gnomAD-3.1.2 6.66184E-03
7726 25 S/L 38 rs17452588 0.2730 None 1000 genomes 1.99681E-03
7726 25 S/L 38 rs17452588 0.2730 None gnomAD-4.0.0 7.11628E-03
7727 26 G/E 40 rs763907919 0.2726 None gnomAD-2.1.1 4.03E-06
7727 26 G/E 40 rs763907919 0.2726 None gnomAD-4.0.0 3.18505E-06
7728 27 T/A 41 rs760839592 0.7222 None gnomAD-2.1.1 8.07E-06
7728 27 T/A 41 rs760839592 0.7222 None gnomAD-4.0.0 4.77692E-06
7729 28 P/L 42 None 0.2879 None gnomAD-4.0.0 6.84418E-07
7730 29 P/A 43 rs774547593 0.7954 None gnomAD-2.1.1 1.61E-05
7730 29 P/A 43 rs774547593 0.7954 None gnomAD-3.1.2 6.58E-06
7730 29 P/A 43 rs774547593 0.7954 None gnomAD-4.0.0 6.19891E-06
7730 29 P/S 43 rs774547593 0.7954 None gnomAD-2.1.1 4.03E-06
7730 29 P/S 43 rs774547593 0.7954 None gnomAD-4.0.0 6.8441E-07
7733 32 V/A 46 None 0.2604 None gnomAD-4.0.0 4.1063E-06
7733 32 V/I 46 rs1238420893 0.2604 None gnomAD-3.1.2 1.31E-05
7733 32 V/I 46 rs1238420893 0.2604 None gnomAD-4.0.0 1.21793E-05
7734 33 V/G 47 rs778239287 0.3320 None gnomAD-2.1.1 4.03E-06
7734 33 V/G 47 rs778239287 0.3320 None gnomAD-4.0.0 1.59215E-06
7734 33 V/I 47 rs749838164 0.3320 None gnomAD-2.1.1 4.03E-06
7734 33 V/I 47 rs749838164 0.3320 None gnomAD-4.0.0 4.10626E-06
7734 33 V/L 47 None 0.3320 None gnomAD-4.0.0 1.36875E-06
7735 34 W/G 48 None 0.1402 None gnomAD-4.0.0 6.84367E-07
7735 34 W/S 48 rs1031182598 0.1402 None gnomAD-2.1.1 4.03E-06
7735 34 W/S 48 rs1031182598 0.1402 None gnomAD-4.0.0 3.18447E-06
7736 35 V/D 49 None 0.2179 None gnomAD-4.0.0 1.59208E-06
7736 35 V/F 49 rs770301886 0.2179 None gnomAD-2.1.1 1.21E-05
7736 35 V/F 49 rs770301886 0.2179 None gnomAD-4.0.0 7.96062E-06
7737 36 K/E 50 rs746599694 0.1228 None gnomAD-2.1.1 4.03E-06
7737 36 K/E 50 rs746599694 0.1228 None gnomAD-4.0.0 1.5921E-06
7737 36 K/T 50 rs768911832 0.1228 None gnomAD-2.1.1 4.03E-05
7737 36 K/T 50 rs768911832 0.1228 None gnomAD-3.1.2 6.57E-06
7737 36 K/T 50 rs768911832 0.1228 None gnomAD-4.0.0 1.61155E-05
7739 38 R/G 52 rs372250586 0.9085 None gnomAD-2.1.1 8.06E-06
7739 38 R/G 52 rs372250586 0.9085 None gnomAD-4.0.0 1.23188E-05
7739 38 R/Q 52 rs749882000 0.9085 None gnomAD-2.1.1 2.15E-05
7739 38 R/Q 52 rs749882000 0.9085 None gnomAD-3.1.2 7.23E-05
7739 38 R/Q 52 rs749882000 0.9085 None gnomAD-4.0.0 1.17764E-05
7742 41 V/A 58 rs1553907288 0.1698 None gnomAD-4.0.0 2.05294E-06
7744 43 N/K 70 rs72648972 0.5925 None gnomAD-2.1.1 3.74668E-03
7744 43 N/K 70 rs72648972 0.5925 None gnomAD-3.1.2 1.97847E-03
7744 43 N/K 70 rs72648972 0.5925 None 1000 genomes 4.99201E-03
7744 43 N/K 70 rs72648972 0.5925 None gnomAD-4.0.0 2.52118E-03
7744 43 N/S 70 rs757107171 0.5925 None gnomAD-2.1.1 4.03E-06
7744 43 N/S 70 rs757107171 0.5925 None gnomAD-4.0.0 1.59181E-06
7749 48 K/T 122 None 0.6214 None gnomAD-4.0.0 1.20032E-06
7750 49 I/V 123 None 0.2071 None gnomAD-4.0.0 1.59171E-06
7751 50 T/A 125 rs763821900 0.4345 None gnomAD-2.1.1 8.04E-06
7751 50 T/A 125 rs763821900 0.4345 None gnomAD-3.1.2 6.57E-06
7751 50 T/A 125 rs763821900 0.4345 None gnomAD-4.0.0 3.09875E-06
7751 50 T/I 125 None 0.4345 None gnomAD-4.0.0 3.42143E-06
7751 50 T/N 125 rs1276891291 0.4345 None gnomAD-2.1.1 4.02E-06
7751 50 T/N 125 rs1276891291 0.4345 None gnomAD-4.0.0 1.36857E-06
7753 52 K/E 130 None 0.7905 None gnomAD-4.0.0 1.20032E-06
7753 52 K/N 130 None 0.7905 None gnomAD-4.0.0 6.84279E-07
7754 53 H/N 131 None 0.8612 None gnomAD-4.0.0 2.05285E-06
7754 53 H/Q 131 rs1043714210 0.8612 None gnomAD-2.1.1 3.18E-05
7754 53 H/Q 131 rs1043714210 0.8612 None gnomAD-3.1.2 6.57E-06
7754 53 H/Q 131 rs1043714210 0.8612 None gnomAD-4.0.0 3.04482E-06
7754 53 H/Y 131 None 0.8612 None gnomAD-4.0.0 6.84285E-07
7755 54 F/S 134 None 0.3936 None gnomAD-4.0.0 6.84277E-07
7755 54 F/Y 134 None 0.3936 None gnomAD-4.0.0 6.84277E-07
7756 55 D/N 135 None 0.4307 None gnomAD-4.0.0 1.59165E-06
7756 55 D/V 135 None 0.4307 None gnomAD-4.0.0 1.59163E-06
7756 55 D/Y 135 rs534249494 0.4307 None gnomAD-2.1.1 8.04E-06
7756 55 D/Y 135 rs534249494 0.4307 None gnomAD-4.0.0 7.95824E-06
7757 56 T/A 136 rs767710865 0.1383 None gnomAD-4.0.0 2.73711E-06
7757 56 T/R 136 rs2154300676 0.1383 None gnomAD-3.1.2 6.57E-06
7757 56 T/R 136 rs2154300676 0.1383 None gnomAD-4.0.0 6.56711E-06
7757 56 T/S 136 rs767710865 0.1383 None gnomAD-3.1.2 1.31E-05
7757 56 T/S 136 rs767710865 0.1383 None gnomAD-4.0.0 1.36331E-05
7758 57 S/N 137 rs1464026759 0.1582 None gnomAD-2.1.1 4.02E-06
7758 57 S/N 137 rs1464026759 0.1582 None gnomAD-3.1.2 1.31E-05
7758 57 S/N 137 rs1464026759 0.1582 None gnomAD-4.0.0 4.33825E-06
7758 57 S/R 137 rs1402117670 0.1582 None gnomAD-2.1.1 8.04E-06
7758 57 S/R 137 rs1402117670 0.1582 None gnomAD-4.0.0 4.78991E-06
7759 58 L/I 138 None 0.0672 None gnomAD-4.0.0 2.05283E-06
7760 59 H/P 139 rs1577994546 0.3505 None gnomAD-3.1.2 6.57E-06
7760 59 H/P 139 rs1577994546 0.3505 None gnomAD-4.0.0 6.57047E-06
7760 59 H/R 139 rs1577994546 0.3505 None gnomAD-4.0.0 1.20032E-06
7760 59 H/Y 139 rs759847053 0.3505 None gnomAD-2.1.1 1.21E-05
7760 59 H/Y 139 rs759847053 0.3505 None gnomAD-4.0.0 4.78991E-06
7761 60 I/T 140 None 0.0850 None gnomAD-4.0.0 1.68046E-05
7763 62 N/S 143 None 0.5246 None gnomAD-4.0.0 2.40065E-06
7764 63 L/I 144 None 0.1010 None gnomAD-4.0.0 1.59156E-06
7764 63 L/P 144 rs1413753534 0.1010 None gnomAD-2.1.1 4.02E-06
7764 63 L/P 144 rs1413753534 0.1010 None gnomAD-4.0.0 1.36852E-06
7765 64 E/D 145 rs774259283 0.4431 None gnomAD-2.1.1 7.14E-06
7765 64 E/D 145 rs774259283 0.4431 None gnomAD-3.1.2 1.97E-05
7765 64 E/D 145 rs774259283 0.4431 None gnomAD-4.0.0 3.09867E-06
7766 65 A/D 146 None 0.4762 None gnomAD-4.0.0 2.05281E-06
7767 66 S/F 148 None 0.5295 None gnomAD-4.0.0 1.59163E-06
7768 67 D/N 149 rs72648973 0.1426 None gnomAD-2.1.1 7.71252E-04
7768 67 D/N 149 rs72648973 0.1426 None gnomAD-3.1.2 8.08604E-04
7768 67 D/N 149 rs72648973 0.1426 None gnomAD-4.0.0 1.27476E-03
7768 67 D/Y 149 None 0.1426 None gnomAD-4.0.0 6.84272E-07
7769 68 V/A 151 None 0.2534 None gnomAD-4.0.0 1.36854E-06
7769 68 V/F 151 None 0.2534 None gnomAD-4.0.0 6.84269E-07
7769 68 V/I 151 rs1553907172 0.2534 None gnomAD-4.0.0 2.05281E-06
7770 69 G/A 152 rs748511026 0.2306 None gnomAD-3.1.2 6.57E-06
7770 69 G/A 152 rs748511026 0.2306 None gnomAD-4.0.0 6.57315E-06
7770 69 G/E 152 rs748511026 0.2306 None gnomAD-2.1.1 4.02E-06
7770 69 G/E 152 rs748511026 0.2306 None gnomAD-3.1.2 6.57E-06
7770 69 G/E 152 rs748511026 0.2306 None gnomAD-4.0.0 1.42544E-05
7770 69 G/R 152 rs374739582 0.2306 None gnomAD-2.1.1 4.64E-05
7770 69 G/R 152 rs374739582 0.2306 None gnomAD-3.1.2 3.94E-05
7770 69 G/R 152 rs374739582 0.2306 None gnomAD-4.0.0 5.94971E-05
7771 70 E/K 153 None 0.4391 None gnomAD-4.0.0 4.80129E-06
7773 72 H/Y 155 rs777185633 0.3889 None gnomAD-2.1.1 1.21E-05
7773 72 H/Y 155 rs777185633 0.3889 None gnomAD-4.0.0 5.47414E-06
7775 74 K/Q 157 rs771592871 0.4073 None gnomAD-2.1.1 4.02E-06
7775 74 K/Q 157 rs771592871 0.4073 None gnomAD-4.0.0 1.90987E-05
7776 75 A/T 158 None 0.0809 None gnomAD-4.0.0 1.20032E-06
7777 76 T/A 159 None 0.2675 None gnomAD-4.0.0 1.59171E-06
7778 77 N/D 161 rs2078170998 0.2077 None gnomAD-4.0.0 3.18347E-06
7778 77 N/S 161 None 0.2077 None gnomAD-4.0.0 1.59179E-06
7779 78 E/D 162 rs1253898130 1.0301 None gnomAD-4.0.0 3.18402E-06
7779 78 E/K 162 rs1314203498 1.0301 None gnomAD-4.0.0 6.84315E-07
7780 79 V/E 163 None 0.8529 None gnomAD-4.0.0 1.20032E-06
7780 79 V/L 163 rs1220083902 0.8529 None gnomAD-2.1.1 4.03E-06
7780 79 V/L 163 rs1220083902 0.8529 None gnomAD-4.0.0 1.592E-06
7780 79 V/M 163 None 0.8529 None gnomAD-4.0.0 1.592E-06
7781 80 G/E 164 rs868631561 0.2770 None gnomAD-4.0.0 6.00161E-06
7783 82 D/G 166 rs2078167222 0.2362 None gnomAD-3.1.2 6.57E-06
7783 82 D/G 166 rs2078167222 0.2362 None gnomAD-4.0.0 6.57065E-06
7783 82 D/H 166 None 0.2362 None gnomAD-4.0.0 1.59308E-06
7784 83 T/K 168 None 0.3338 None gnomAD-4.0.0 1.36909E-06
7784 83 T/M 168 rs745569991 0.3338 None gnomAD-2.1.1 4.03E-06
7784 83 T/M 168 rs745569991 0.3338 None gnomAD-4.0.0 1.36909E-06
7785 84 C/R 169 rs371090975 0.1150 None gnomAD-2.1.1 5.37E-05
7785 84 C/R 169 rs371090975 0.1150 None gnomAD-3.1.2 1.64253E-04
7785 84 C/R 169 rs371090975 0.1150 None 1000 genomes 1.19808E-03
7785 84 C/R 169 rs371090975 0.1150 None gnomAD-4.0.0 3.03775E-05
7785 84 C/Y 169 rs1315544282 0.1150 None gnomAD-2.1.1 3.18E-05
7785 84 C/Y 169 rs1315544282 0.1150 None gnomAD-3.1.2 1.31E-05
7785 84 C/Y 169 rs1315544282 0.1150 None gnomAD-4.0.0 3.10018E-06
7786 85 S/Y 171 rs794729628 0.4278 None gnomAD-2.1.1 4.03E-06
7786 85 S/Y 171 rs794729628 0.4278 None gnomAD-3.1.2 1.31E-05
7786 85 S/Y 171 rs794729628 0.4278 None gnomAD-4.0.0 7.6957E-06
7787 86 C/F 172 rs1332033261 0.1427 None gnomAD-4.0.0 6.84853E-07
7787 86 C/S 172 rs1332033261 0.1427 None gnomAD-2.1.1 4.04E-06
7787 86 C/S 172 rs1332033261 0.1427 None gnomAD-4.0.0 6.84853E-07
7787 86 C/Y 172 None 0.1427 None gnomAD-4.0.0 6.84853E-07
7788 87 S/F 173 rs749160569 0.2872 None gnomAD-2.1.1 2.87E-05
7788 87 S/F 173 rs749160569 0.2872 None gnomAD-3.1.2 6.57E-06
7788 87 S/F 173 rs749160569 0.2872 None gnomAD-4.0.0 6.20211E-06
7790 89 K/N 175 rs752463765 0.5982 None gnomAD-2.1.1 4.05E-06
7790 89 K/N 175 rs752463765 0.5982 None gnomAD-4.0.0 1.59836E-06
7790 89 K/T 175 rs756098759 0.5982 None gnomAD-2.1.1 4.05E-06
7790 89 K/T 175 rs756098759 0.5982 None gnomAD-4.0.0 1.59754E-06
7791 90 F/C 177 None 0.2805 None gnomAD-4.0.0 6.85453E-07
7791 90 F/L 177 rs727505045 0.2805 None gnomAD-2.1.1 4.05E-06
7791 90 F/L 177 rs727505045 0.2805 None gnomAD-4.0.0 1.37085E-06
7791 90 F/S 177 rs755115857 0.2805 None gnomAD-2.1.1 4.05E-06
7791 90 F/S 177 rs755115857 0.2805 None gnomAD-4.0.0 4.79817E-06
7791 90 F/V 177 None 0.2805 None gnomAD-4.0.0 6.85427E-07