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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7702 1 P/S 1 None 0.1603 None gnomAD-4.0.0 7.00126E-07
7703 2 V/I 2 rs1318077959 0.5025 None gnomAD-2.1.1 4.56E-06
7703 2 V/I 2 rs1318077959 0.5025 None gnomAD-4.0.0 3.34496E-06
7704 3 F/L 3 rs2078208221 0.1339 None gnomAD-4.0.0 1.6605E-06
7705 4 T/I 4 rs772162626 0.4700 None gnomAD-2.1.1 3.1E-05
7705 4 T/I 4 rs772162626 0.4700 None gnomAD-3.1.2 6.58E-06
7705 4 T/I 4 rs772162626 0.4700 None gnomAD-4.0.0 1.00511E-05
7705 4 T/S 4 rs772162626 0.4700 None gnomAD-3.1.2 1.32E-05
7705 4 T/S 4 rs772162626 0.4700 None gnomAD-4.0.0 2.51278E-06
7706 5 Q/R 5 None 0.4016 None gnomAD-4.0.0 4.80129E-06
7707 6 K/R 7 None 0.5114 None gnomAD-4.0.0 2.40064E-06
7708 7 P/L 8 None 0.2189 None gnomAD-4.0.0 1.38223E-06
7708 7 P/T 8 None 0.2189 None gnomAD-4.0.0 1.63565E-06
7710 9 P/L 11 None 0.5906 None gnomAD-4.0.0 6.88837E-07
7710 9 P/S 11 rs1157011296 0.5906 None gnomAD-4.0.0 1.37752E-06
7711 10 V/A 13 None 0.3058 None gnomAD-4.0.0 1.60995E-06
7711 10 V/L 13 rs771533917 0.3058 None gnomAD-2.1.1 1.67E-05
7711 10 V/L 13 rs771533917 0.3058 None gnomAD-4.0.0 3.4435E-06
7712 11 G/R 14 None 0.3496 None gnomAD-4.0.0 2.06262E-06
7713 12 A/T 16 rs778331160 0.1529 None gnomAD-2.1.1 1.24E-05
7713 12 A/T 16 rs778331160 0.1529 None gnomAD-4.0.0 4.82194E-06
7715 14 K/E 23 None 0.6554 None gnomAD-4.0.0 1.59966E-06
7715 14 K/T 23 None 0.6554 None gnomAD-4.0.0 1.60001E-06
7716 15 G/A 24 rs751284978 0.2656 None gnomAD-3.1.2 6.58E-06
7716 15 G/A 24 rs751284978 0.2656 None gnomAD-4.0.0 5.58747E-06
7716 15 G/C 24 rs2154300766 0.2656 None gnomAD-4.0.0 1.59916E-06
7716 15 G/D 24 None 0.2656 None gnomAD-2.1.1 2.17E-05
7716 15 G/D 24 None 0.2656 None gnomAD-3.1.2 8.55E-05
7716 15 G/D 24 None 0.2656 None gnomAD-4.0.0 2.17306E-05
7716 15 G/V 24 rs751284978 0.2656 None gnomAD-2.1.1 1.63E-05
7716 15 G/V 24 rs751284978 0.2656 None gnomAD-4.0.0 7.54165E-06
7718 17 D/G 26 rs1216947854 0.5695 None gnomAD-2.1.1 4.05E-06
7718 17 D/G 26 rs1216947854 0.5695 None gnomAD-4.0.0 4.10825E-06
7718 17 D/N 26 None 0.5695 None gnomAD-4.0.0 6.84766E-07
7720 19 I/V 29 rs757989250 0.4621 None gnomAD-2.1.1 8.08E-06
7720 19 I/V 29 rs757989250 0.4621 None gnomAD-4.0.0 4.77815E-06
7722 21 Q/R 31 None 0.5632 None gnomAD-4.0.0 1.59252E-06
7723 22 C/R 33 rs2078198396 0.0808 None gnomAD-4.0.0 1.36887E-06
7723 22 C/Y 33 None 0.0808 None gnomAD-4.0.0 1.20032E-06
7724 23 E/A 34 rs750019682 0.2823 None gnomAD-2.1.1 4.03E-06
7724 23 E/A 34 rs750019682 0.2823 None gnomAD-4.0.0 1.59243E-06
7725 24 I/M 35 rs1270184889 0.0902 None gnomAD-4.0.0 1.59241E-06
7725 24 I/T 35 None 0.0902 None gnomAD-4.0.0 1.20033E-06
7726 25 S/L 38 rs17452588 0.2979 None gnomAD-2.1.1 7.25853E-03
7726 25 S/L 38 rs17452588 0.2979 None gnomAD-3.1.2 6.66184E-03
7726 25 S/L 38 rs17452588 0.2979 None 1000 genomes 1.99681E-03
7726 25 S/L 38 rs17452588 0.2979 None gnomAD-4.0.0 7.11628E-03
7727 26 G/E 40 rs763907919 0.2945 None gnomAD-2.1.1 4.03E-06
7727 26 G/E 40 rs763907919 0.2945 None gnomAD-4.0.0 3.18505E-06
7728 27 T/A 41 rs760839592 0.7139 None gnomAD-2.1.1 8.07E-06
7728 27 T/A 41 rs760839592 0.7139 None gnomAD-4.0.0 4.77692E-06
7729 28 P/L 42 None 0.3656 None gnomAD-4.0.0 6.84418E-07
7730 29 P/A 43 rs774547593 0.7560 None gnomAD-2.1.1 1.61E-05
7730 29 P/A 43 rs774547593 0.7560 None gnomAD-3.1.2 6.58E-06
7730 29 P/A 43 rs774547593 0.7560 None gnomAD-4.0.0 6.19891E-06
7730 29 P/S 43 rs774547593 0.7560 None gnomAD-2.1.1 4.03E-06
7730 29 P/S 43 rs774547593 0.7560 None gnomAD-4.0.0 6.8441E-07
7733 32 V/A 46 None 0.2737 None gnomAD-4.0.0 4.1063E-06
7733 32 V/I 46 rs1238420893 0.2737 None gnomAD-3.1.2 1.31E-05
7733 32 V/I 46 rs1238420893 0.2737 None gnomAD-4.0.0 1.21793E-05
7734 33 V/G 47 rs778239287 0.3474 None gnomAD-2.1.1 4.03E-06
7734 33 V/G 47 rs778239287 0.3474 None gnomAD-4.0.0 1.59215E-06
7734 33 V/I 47 rs749838164 0.3474 None gnomAD-2.1.1 4.03E-06
7734 33 V/I 47 rs749838164 0.3474 None gnomAD-4.0.0 4.10626E-06
7734 33 V/L 47 None 0.3474 None gnomAD-4.0.0 1.36875E-06
7735 34 W/G 48 None 0.1362 None gnomAD-4.0.0 6.84367E-07
7735 34 W/S 48 rs1031182598 0.1362 None gnomAD-2.1.1 4.03E-06
7735 34 W/S 48 rs1031182598 0.1362 None gnomAD-4.0.0 3.18447E-06
7736 35 V/D 49 None 0.2099 None gnomAD-4.0.0 1.59208E-06
7736 35 V/F 49 rs770301886 0.2099 None gnomAD-2.1.1 1.21E-05
7736 35 V/F 49 rs770301886 0.2099 None gnomAD-4.0.0 7.96062E-06
7737 36 K/E 50 rs746599694 0.1136 None gnomAD-2.1.1 4.03E-06
7737 36 K/E 50 rs746599694 0.1136 None gnomAD-4.0.0 1.5921E-06
7737 36 K/T 50 rs768911832 0.1136 None gnomAD-2.1.1 4.03E-05
7737 36 K/T 50 rs768911832 0.1136 None gnomAD-3.1.2 6.57E-06
7737 36 K/T 50 rs768911832 0.1136 None gnomAD-4.0.0 1.61155E-05
7739 38 R/G 52 rs372250586 0.9597 None gnomAD-2.1.1 8.06E-06
7739 38 R/G 52 rs372250586 0.9597 None gnomAD-4.0.0 1.23188E-05
7739 38 R/Q 52 rs749882000 0.9597 None gnomAD-2.1.1 2.15E-05
7739 38 R/Q 52 rs749882000 0.9597 None gnomAD-3.1.2 7.23E-05
7739 38 R/Q 52 rs749882000 0.9597 None gnomAD-4.0.0 1.17764E-05
7742 41 V/A 58 rs1553907288 0.1596 None gnomAD-4.0.0 2.05294E-06
7744 43 N/K 70 rs72648972 0.6196 None gnomAD-2.1.1 3.74668E-03
7744 43 N/K 70 rs72648972 0.6196 None gnomAD-3.1.2 1.97847E-03
7744 43 N/K 70 rs72648972 0.6196 None 1000 genomes 4.99201E-03
7744 43 N/K 70 rs72648972 0.6196 None gnomAD-4.0.0 2.52118E-03
7744 43 N/S 70 rs757107171 0.6196 None gnomAD-2.1.1 4.03E-06
7744 43 N/S 70 rs757107171 0.6196 None gnomAD-4.0.0 1.59181E-06
7749 48 K/T 122 None 0.7070 None gnomAD-4.0.0 1.20032E-06
7750 49 I/V 123 None 0.2184 None gnomAD-4.0.0 1.59171E-06
7751 50 T/A 125 rs763821900 0.4648 None gnomAD-2.1.1 8.04E-06
7751 50 T/A 125 rs763821900 0.4648 None gnomAD-3.1.2 6.57E-06
7751 50 T/A 125 rs763821900 0.4648 None gnomAD-4.0.0 3.09875E-06
7751 50 T/I 125 None 0.4648 None gnomAD-4.0.0 3.42143E-06
7751 50 T/N 125 rs1276891291 0.4648 None gnomAD-2.1.1 4.02E-06
7751 50 T/N 125 rs1276891291 0.4648 None gnomAD-4.0.0 1.36857E-06
7753 52 K/E 130 None 0.8680 None gnomAD-4.0.0 1.20032E-06
7753 52 K/N 130 None 0.8680 None gnomAD-4.0.0 6.84279E-07
7754 53 H/N 131 None 0.8735 None gnomAD-4.0.0 2.05285E-06
7754 53 H/Q 131 rs1043714210 0.8735 None gnomAD-2.1.1 3.18E-05
7754 53 H/Q 131 rs1043714210 0.8735 None gnomAD-3.1.2 6.57E-06
7754 53 H/Q 131 rs1043714210 0.8735 None gnomAD-4.0.0 3.04482E-06
7754 53 H/Y 131 None 0.8735 None gnomAD-4.0.0 6.84285E-07
7755 54 F/S 134 None 0.4021 None gnomAD-4.0.0 6.84277E-07
7755 54 F/Y 134 None 0.4021 None gnomAD-4.0.0 6.84277E-07
7756 55 D/N 135 None 0.5244 None gnomAD-4.0.0 1.59165E-06
7756 55 D/V 135 None 0.5244 None gnomAD-4.0.0 1.59163E-06
7756 55 D/Y 135 rs534249494 0.5244 None gnomAD-2.1.1 8.04E-06
7756 55 D/Y 135 rs534249494 0.5244 None gnomAD-4.0.0 7.95824E-06
7757 56 T/A 136 rs767710865 0.1288 None gnomAD-4.0.0 2.73711E-06
7757 56 T/R 136 rs2154300676 0.1288 None gnomAD-3.1.2 6.57E-06
7757 56 T/R 136 rs2154300676 0.1288 None gnomAD-4.0.0 6.56711E-06
7757 56 T/S 136 rs767710865 0.1288 None gnomAD-3.1.2 1.31E-05
7757 56 T/S 136 rs767710865 0.1288 None gnomAD-4.0.0 1.36331E-05
7758 57 S/N 137 rs1464026759 0.1380 None gnomAD-2.1.1 4.02E-06
7758 57 S/N 137 rs1464026759 0.1380 None gnomAD-3.1.2 1.31E-05
7758 57 S/N 137 rs1464026759 0.1380 None gnomAD-4.0.0 4.33825E-06
7758 57 S/R 137 rs1402117670 0.1380 None gnomAD-2.1.1 8.04E-06
7758 57 S/R 137 rs1402117670 0.1380 None gnomAD-4.0.0 4.78991E-06
7759 58 L/I 138 None 0.0649 None gnomAD-4.0.0 2.05283E-06
7760 59 H/P 139 rs1577994546 0.3313 None gnomAD-3.1.2 6.57E-06
7760 59 H/P 139 rs1577994546 0.3313 None gnomAD-4.0.0 6.57047E-06
7760 59 H/R 139 rs1577994546 0.3313 None gnomAD-4.0.0 1.20032E-06
7760 59 H/Y 139 rs759847053 0.3313 None gnomAD-2.1.1 1.21E-05
7760 59 H/Y 139 rs759847053 0.3313 None gnomAD-4.0.0 4.78991E-06
7761 60 I/T 140 None 0.0787 None gnomAD-4.0.0 1.68046E-05
7763 62 N/S 143 None 0.5106 None gnomAD-4.0.0 2.40065E-06
7764 63 L/I 144 None 0.0928 None gnomAD-4.0.0 1.59156E-06
7764 63 L/P 144 rs1413753534 0.0928 None gnomAD-2.1.1 4.02E-06
7764 63 L/P 144 rs1413753534 0.0928 None gnomAD-4.0.0 1.36852E-06
7765 64 E/D 145 rs774259283 0.3885 None gnomAD-2.1.1 7.14E-06
7765 64 E/D 145 rs774259283 0.3885 None gnomAD-3.1.2 1.97E-05
7765 64 E/D 145 rs774259283 0.3885 None gnomAD-4.0.0 3.09867E-06
7766 65 A/D 146 None 0.4720 None gnomAD-4.0.0 2.05281E-06
7767 66 S/F 148 None 0.4670 None gnomAD-4.0.0 1.59163E-06
7768 67 D/N 149 rs72648973 0.1209 None gnomAD-2.1.1 7.71252E-04
7768 67 D/N 149 rs72648973 0.1209 None gnomAD-3.1.2 8.08604E-04
7768 67 D/N 149 rs72648973 0.1209 None gnomAD-4.0.0 1.27476E-03
7768 67 D/Y 149 None 0.1209 None gnomAD-4.0.0 6.84272E-07
7769 68 V/A 151 None 0.2571 None gnomAD-4.0.0 1.36854E-06
7769 68 V/F 151 None 0.2571 None gnomAD-4.0.0 6.84269E-07
7769 68 V/I 151 rs1553907172 0.2571 None gnomAD-4.0.0 2.05281E-06
7770 69 G/A 152 rs748511026 0.2190 None gnomAD-3.1.2 6.57E-06
7770 69 G/A 152 rs748511026 0.2190 None gnomAD-4.0.0 6.57315E-06
7770 69 G/E 152 rs748511026 0.2190 None gnomAD-2.1.1 4.02E-06
7770 69 G/E 152 rs748511026 0.2190 None gnomAD-3.1.2 6.57E-06
7770 69 G/E 152 rs748511026 0.2190 None gnomAD-4.0.0 1.42544E-05
7770 69 G/R 152 rs374739582 0.2190 None gnomAD-2.1.1 4.64E-05
7770 69 G/R 152 rs374739582 0.2190 None gnomAD-3.1.2 3.94E-05
7770 69 G/R 152 rs374739582 0.2190 None gnomAD-4.0.0 5.94971E-05
7771 70 E/K 153 None 0.4046 None gnomAD-4.0.0 4.80129E-06
7773 72 H/Y 155 rs777185633 0.3909 None gnomAD-2.1.1 1.21E-05
7773 72 H/Y 155 rs777185633 0.3909 None gnomAD-4.0.0 5.47414E-06
7775 74 K/Q 157 rs771592871 0.3506 None gnomAD-2.1.1 4.02E-06
7775 74 K/Q 157 rs771592871 0.3506 None gnomAD-4.0.0 1.90987E-05
7776 75 A/T 158 None 0.0795 None gnomAD-4.0.0 1.20032E-06
7777 76 T/A 159 None 0.2540 None gnomAD-4.0.0 1.59171E-06
7778 77 N/D 161 rs2078170998 0.1932 None gnomAD-4.0.0 3.18347E-06
7778 77 N/S 161 None 0.1932 None gnomAD-4.0.0 1.59179E-06
7779 78 E/D 162 rs1253898130 1.0162 None gnomAD-4.0.0 3.18402E-06
7779 78 E/K 162 rs1314203498 1.0162 None gnomAD-4.0.0 6.84315E-07
7780 79 V/E 163 None 0.8440 None gnomAD-4.0.0 1.20032E-06
7780 79 V/L 163 rs1220083902 0.8440 None gnomAD-2.1.1 4.03E-06
7780 79 V/L 163 rs1220083902 0.8440 None gnomAD-4.0.0 1.592E-06
7780 79 V/M 163 None 0.8440 None gnomAD-4.0.0 1.592E-06
7781 80 G/E 164 rs868631561 0.2799 None gnomAD-4.0.0 6.00161E-06
7783 82 D/G 166 rs2078167222 0.2340 None gnomAD-3.1.2 6.57E-06
7783 82 D/G 166 rs2078167222 0.2340 None gnomAD-4.0.0 6.57065E-06
7783 82 D/H 166 None 0.2340 None gnomAD-4.0.0 1.59308E-06
7784 83 T/K 168 None 0.3263 None gnomAD-4.0.0 1.36909E-06
7784 83 T/M 168 rs745569991 0.3263 None gnomAD-2.1.1 4.03E-06
7784 83 T/M 168 rs745569991 0.3263 None gnomAD-4.0.0 1.36909E-06
7785 84 C/R 169 rs371090975 0.1146 None gnomAD-2.1.1 5.37E-05
7785 84 C/R 169 rs371090975 0.1146 None gnomAD-3.1.2 1.64253E-04
7785 84 C/R 169 rs371090975 0.1146 None 1000 genomes 1.19808E-03
7785 84 C/R 169 rs371090975 0.1146 None gnomAD-4.0.0 3.03775E-05
7785 84 C/Y 169 rs1315544282 0.1146 None gnomAD-2.1.1 3.18E-05
7785 84 C/Y 169 rs1315544282 0.1146 None gnomAD-3.1.2 1.31E-05
7785 84 C/Y 169 rs1315544282 0.1146 None gnomAD-4.0.0 3.10018E-06
7786 85 S/Y 171 rs794729628 0.3662 None gnomAD-2.1.1 4.03E-06
7786 85 S/Y 171 rs794729628 0.3662 None gnomAD-3.1.2 1.31E-05
7786 85 S/Y 171 rs794729628 0.3662 None gnomAD-4.0.0 7.6957E-06
7787 86 C/F 172 rs1332033261 0.1160 None gnomAD-4.0.0 6.84853E-07
7787 86 C/S 172 rs1332033261 0.1160 None gnomAD-2.1.1 4.04E-06
7787 86 C/S 172 rs1332033261 0.1160 None gnomAD-4.0.0 6.84853E-07
7787 86 C/Y 172 None 0.1160 None gnomAD-4.0.0 6.84853E-07
7788 87 S/F 173 rs749160569 0.2800 None gnomAD-2.1.1 2.87E-05
7788 87 S/F 173 rs749160569 0.2800 None gnomAD-3.1.2 6.57E-06
7788 87 S/F 173 rs749160569 0.2800 None gnomAD-4.0.0 6.20211E-06
7790 89 K/N 175 rs752463765 0.6271 None gnomAD-2.1.1 4.05E-06
7790 89 K/N 175 rs752463765 0.6271 None gnomAD-4.0.0 1.59836E-06
7790 89 K/T 175 rs756098759 0.6271 None gnomAD-2.1.1 4.05E-06
7790 89 K/T 175 rs756098759 0.6271 None gnomAD-4.0.0 1.59754E-06
7791 90 F/C 177 None 0.3545 None gnomAD-4.0.0 6.85453E-07
7791 90 F/L 177 rs727505045 0.3545 None gnomAD-2.1.1 4.05E-06
7791 90 F/L 177 rs727505045 0.3545 None gnomAD-4.0.0 1.37085E-06
7791 90 F/S 177 rs755115857 0.3545 None gnomAD-2.1.1 4.05E-06
7791 90 F/S 177 rs755115857 0.3545 None gnomAD-4.0.0 4.79817E-06
7791 90 F/V 177 None 0.3545 None gnomAD-4.0.0 6.85427E-07