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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
4701 2 V/A 2 rs763929922 0.5429 None gnomAD-2.1.1 4.05E-06
4701 2 V/A 2 rs763929922 0.5429 None gnomAD-4.0.0 1.59656E-06
4701 2 V/L 2 rs1306703274 0.5429 None gnomAD-2.1.1 3.18E-05
4701 2 V/L 2 rs1306703274 0.5429 None gnomAD-3.1.2 6.57E-06
4701 2 V/L 2 rs1306703274 0.5429 None gnomAD-4.0.0 2.57038E-06
4702 3 I/F 3 rs545434193 0.1966 None gnomAD-2.1.1 4.05E-06
4702 3 I/F 3 rs545434193 0.1966 None gnomAD-3.1.2 6.57E-06
4702 3 I/F 3 rs545434193 0.1966 None 1000 genomes 1.99681E-04
4702 3 I/F 3 rs545434193 0.1966 None gnomAD-4.0.0 6.56702E-06
4702 3 I/M 3 None 0.1966 None gnomAD-4.0.0 2.40064E-06
4703 4 K/Q 4 rs1479181903 0.4624 None gnomAD-2.1.1 4.04E-06
4703 4 K/Q 4 rs1479181903 0.4624 None gnomAD-4.0.0 1.59553E-06
4704 5 R/G 5 rs775443847 0.5280 None gnomAD-2.1.1 4.04E-06
4704 5 R/G 5 rs775443847 0.5280 None gnomAD-4.0.0 1.59525E-06
4704 5 R/K 5 None 0.5280 None gnomAD-4.0.0 1.59526E-06
4705 6 K/Q 7 None 0.7130 None gnomAD-4.0.0 1.20032E-06
4706 7 I/M 8 rs267599072 0.1118 None gnomAD-4.0.0 4.10836E-06
4707 8 E/K 9 rs749584249 0.8150 None gnomAD-2.1.1 2.15E-05
4707 8 E/K 9 rs749584249 0.8150 None gnomAD-3.1.2 3.29E-05
4707 8 E/K 9 rs749584249 0.8150 None gnomAD-4.0.0 1.67438E-05
4707 8 E/Q 9 rs749584249 0.8150 None gnomAD-2.1.1 8.08E-06
4707 8 E/Q 9 rs749584249 0.8150 None gnomAD-4.0.0 1.36945E-06
4708 9 P/A 11 None 0.5494 None gnomAD-4.0.0 2.40064E-06
4708 9 P/L 11 rs778412304 0.5494 None gnomAD-2.1.1 8.07E-06
4708 9 P/L 11 rs778412304 0.5494 None gnomAD-4.0.0 5.47686E-06
4708 9 P/T 11 None 0.5494 None gnomAD-4.0.0 1.20032E-06
4709 10 L/P 13 rs756566095 0.3163 None gnomAD-2.1.1 4.03E-06
4709 10 L/P 13 rs756566095 0.3163 None gnomAD-4.0.0 1.59303E-06
4711 12 V/A 16 rs1217292413 0.1576 None gnomAD-2.1.1 4.03E-06
4711 12 V/A 16 rs1217292413 0.1576 None gnomAD-4.0.0 6.84448E-07
4711 12 V/E 16 None 0.1576 None gnomAD-4.0.0 1.3689E-06
4713 14 L/P 23 None 0.6422 None gnomAD-4.0.0 1.59221E-06
4714 15 G/D 24 rs750125429 0.2484 None gnomAD-2.1.1 8.23E-05
4714 15 G/D 24 rs750125429 0.2484 None gnomAD-3.1.2 3.29E-05
4714 15 G/D 24 rs750125429 0.2484 DCM
Literature None
4714 15 G/D 24 rs750125429 0.2484 None gnomAD-4.0.0 2.35542E-05
4714 15 G/S 24 rs757944467 0.2484 None gnomAD-2.1.1 4.03E-06
4714 15 G/S 24 rs757944467 0.2484 None gnomAD-4.0.0 3.18439E-06
4715 16 H/Y 25 rs376855980 0.6077 None gnomAD-4.0.0 1.20032E-06
4716 17 L/V 26 None 0.4757 None gnomAD-4.0.0 1.20032E-06
4717 18 A/D 28 None 0.1236 None gnomAD-4.0.0 6.84348E-07
4717 18 A/V 28 None 0.1236 None gnomAD-4.0.0 6.84348E-07
4718 19 K/E 29 rs757119133 0.3928 None gnomAD-2.1.1 2.15E-05
4718 19 K/E 29 rs757119133 0.3928 None gnomAD-3.1.2 2.63E-05
4718 19 K/E 29 rs757119133 0.3928 None gnomAD-4.0.0 5.14421E-05
4718 19 K/I 29 rs753558755 0.3928 None gnomAD-2.1.1 2.82E-05
4718 19 K/I 29 rs753558755 0.3928 None gnomAD-3.1.2 6.57E-06
4718 19 K/I 29 rs753558755 0.3928 None gnomAD-4.0.0 5.57814E-06
4718 19 K/R 29 rs753558755 0.3928 None gnomAD-4.0.0 1.36869E-06
4720 21 T/A 31 None 0.2492 None gnomAD-4.0.0 1.59206E-06
4720 21 T/I 31 rs373130116 0.2492 None gnomAD-2.1.1 8.05E-06
4720 21 T/I 31 rs373130116 0.2492 None gnomAD-4.0.0 3.18402E-06
4721 22 C/S 33 rs760530704 0.1169 None gnomAD-2.1.1 4.03E-06
4721 22 C/S 33 rs760530704 0.1169 None gnomAD-3.1.2 6.57E-06
4721 22 C/S 33 rs760530704 0.1169 None gnomAD-4.0.0 2.73743E-06
4722 23 E/K 34 rs767604791 0.2016 None gnomAD-2.1.1 4.03E-06
4722 23 E/K 34 rs767604791 0.2016 None gnomAD-4.0.0 1.59206E-06
4723 24 I/T 35 None 0.0879 None gnomAD-4.0.0 1.59196E-06
4724 25 Q/R 38 rs1553934896 0.4690 None gnomAD-4.0.0 1.36865E-06
4725 26 S/N 40 rs1179360335 0.5550 None gnomAD-2.1.1 4.03E-06
4725 26 S/N 40 rs1179360335 0.5550 None gnomAD-4.0.0 1.36867E-06
4726 27 A/V 41 rs1241571397 0.2578 None gnomAD-2.1.1 4.03E-06
4726 27 A/V 41 rs1241571397 0.2578 None gnomAD-4.0.0 1.59192E-06
4727 28 P/S 42 rs1212488962 0.4628 None gnomAD-2.1.1 4.03E-06
4727 28 P/S 42 rs1212488962 0.4628 None gnomAD-4.0.0 2.60045E-05
4728 29 N/T 43 None 0.7182 None gnomAD-4.0.0 1.20032E-06
4729 30 V/I 44 rs1279065978 0.2060 None gnomAD-2.1.1 4.03E-06
4729 30 V/I 44 rs1279065978 0.2060 None gnomAD-4.0.0 1.59192E-06
4730 31 R/L 45 None 0.5904 None gnomAD-4.0.0 6.84332E-07
4730 31 R/Q 45 rs202017278 0.5904 None gnomAD-2.1.1 2.86E-05
4730 31 R/Q 45 rs202017278 0.5904 None gnomAD-3.1.2 3.94E-05
4730 31 R/Q 45 rs202017278 0.5904 None gnomAD-4.0.0 8.11942E-05
4730 31 R/W 45 rs749719834 0.5904 None gnomAD-2.1.1 1.61E-05
4730 31 R/W 45 rs749719834 0.5904 None gnomAD-3.1.2 1.97E-05
4730 31 R/W 45 rs749719834 0.5904 None gnomAD-4.0.0 8.67716E-06
4733 34 W/C 48 None 0.1179 None gnomAD-4.0.0 1.20032E-06
4735 36 K/E 50 None 0.2135 None gnomAD-4.0.0 1.20032E-06
4737 38 G/C 52 None 0.4484 None gnomAD-4.0.0 1.59177E-06
4738 39 R/G 55 None 0.8217 None gnomAD-4.0.0 1.59182E-06
4738 39 R/Q 55 rs553541436 0.8217 None gnomAD-2.1.1 2.5E-05
4738 39 R/Q 55 rs553541436 0.8217 None gnomAD-3.1.2 5.26E-05
4738 39 R/Q 55 rs553541436 0.8217 None 1000 genomes 1.99681E-04
4738 39 R/Q 55 rs553541436 0.8217 None gnomAD-4.0.0 1.03497E-04
4740 41 I/V 58 rs1381364366 0.1757 None gnomAD-2.1.1 4.02E-06
4740 41 I/V 58 rs1381364366 0.1757 None gnomAD-4.0.0 1.59171E-06
4742 43 E/D 70 None 0.4229 None gnomAD-4.0.0 1.5918E-06
4742 43 E/K 70 rs781746943 0.4229 None gnomAD-2.1.1 4.02E-06
4743 44 S/N 73 None 0.3044 None gnomAD-4.0.0 1.5917E-06
4743 44 S/R 73 None 0.3044 None gnomAD-4.0.0 1.20032E-06
4744 45 D/E 111 rs55906845 1.1479 None gnomAD-2.1.1 2.28665E-04
4744 45 D/E 111 rs55906845 1.1479 None gnomAD-3.1.2 1.77456E-04
4744 45 D/E 111 rs55906845 1.1479 None 1000 genomes 1.99681E-04
4744 45 D/E 111 rs55906845 1.1479 None gnomAD-4.0.0 2.34872E-04
4744 45 D/G 111 None 1.1479 None gnomAD-4.0.0 4.78999E-06
4744 45 D/V 111 rs1241199669 1.1479 None gnomAD-3.1.2 6.57E-06
4744 45 D/V 111 rs1241199669 1.1479 None gnomAD-4.0.0 6.57142E-06
4745 46 K/M 115 None 0.3531 None gnomAD-4.0.0 1.59166E-06
4745 46 K/N 115 rs756868442 0.3531 None gnomAD-4.0.0 6.8428E-07
4745 46 K/R 115 rs778762576 0.3531 None gnomAD-2.1.1 4.02E-06
4745 46 K/R 115 rs778762576 0.3531 None gnomAD-4.0.0 1.59166E-06
4747 48 S/C 122 rs1363033770 0.2477 None gnomAD-2.1.1 4.02E-06
4747 48 S/C 122 rs1363033770 0.2477 None gnomAD-4.0.0 1.59156E-06
4748 49 I/V 123 rs753460929 0.2029 None gnomAD-2.1.1 4.02E-06
4748 49 I/V 123 rs753460929 0.2029 None gnomAD-4.0.0 3.18313E-06
4749 50 R/G 125 None 0.7257 None gnomAD-4.0.0 6.84273E-07
4749 50 R/L 125 None 0.7257 None gnomAD-4.0.0 6.84263E-07
4749 50 R/Q 125 rs763823518 0.7257 None gnomAD-2.1.1 2.41E-05
4749 50 R/Q 125 rs763823518 0.7257 None gnomAD-3.1.2 6.57E-06
4749 50 R/Q 125 rs763823518 0.7257 None gnomAD-4.0.0 8.67664E-06
4750 51 S/P 127 rs1560880563 0.4671 None gnomAD-2.1.1 4.02E-06
4750 51 S/P 127 rs1560880563 0.4671 None gnomAD-4.0.0 1.36851E-06
4750 51 S/T 127 rs1560880563 0.4671 None gnomAD-4.0.0 6.84255E-07
4752 53 K/E 131 rs1383451111 0.6420 None gnomAD-2.1.1 4.02E-06
4752 53 K/E 131 rs1383451111 0.6420 None gnomAD-4.0.0 7.95755E-06
4753 54 Y/C 134 rs752678561 0.2928 None gnomAD-2.1.1 4.02E-06
4753 54 Y/C 134 rs752678561 0.2928 None gnomAD-3.1.2 6.57E-06
4753 54 Y/C 134 rs752678561 0.2928 None gnomAD-4.0.0 2.47889E-06
4753 54 Y/F 134 None 0.2928 None gnomAD-4.0.0 1.36851E-06
4754 55 I/N 135 rs1012186680 0.3734 None gnomAD-4.0.0 6.84252E-07
4754 55 I/T 135 None 0.3734 None gnomAD-4.0.0 6.84252E-07
4755 56 S/C 136 rs767410813 0.0807 None gnomAD-2.1.1 8.04E-06
4755 56 S/C 136 rs767410813 0.0807 None gnomAD-4.0.0 2.05274E-06
4755 56 S/F 136 None 0.0807 None gnomAD-4.0.0 6.84245E-07
4756 57 S/G 137 None 0.1511 None gnomAD-4.0.0 3.18293E-06
4756 57 S/N 137 None 0.1511 None gnomAD-4.0.0 1.59145E-06
4756 57 S/T 137 None 0.1511 None gnomAD-4.0.0 1.59145E-06
4758 59 E/K 139 rs928709551 0.2724 None gnomAD-2.1.1 3.18E-05
4758 59 E/K 139 rs928709551 0.2724 None gnomAD-3.1.2 6.57E-06
4758 59 E/K 139 rs928709551 0.2724 None gnomAD-4.0.0 6.57203E-06
4759 60 I/T 140 None 0.1253 None gnomAD-4.0.0 1.59142E-06
4760 61 L/R 141 rs2081864609 0.4907 None gnomAD-3.1.2 6.57E-06
4760 61 L/R 141 rs2081864609 0.4907 None gnomAD-4.0.0 6.57151E-06
4760 61 L/V 141 rs2081864970 0.4907 None gnomAD-3.1.2 6.57E-06
4760 61 L/V 141 rs2081864970 0.4907 None gnomAD-4.0.0 6.57341E-06
4762 63 T/I 144 rs2081863914 0.1158 None gnomAD-4.0.0 1.20032E-06
4762 63 T/P 144 rs1439059332 0.1158 None gnomAD-3.1.2 6.58E-06
4762 63 T/P 144 rs1439059332 0.1158 None gnomAD-4.0.0 1.85937E-06
4763 64 Q/K 145 rs1187967109 0.4497 None gnomAD-2.1.1 3.18E-05
4763 64 Q/L 145 rs1574049717 0.4497 None gnomAD-4.0.0 1.59135E-06
4765 66 V/A 148 rs1192234880 0.6025 None gnomAD-2.1.1 4.02E-06
4765 66 V/A 148 rs1192234880 0.6025 None gnomAD-4.0.0 5.4738E-06
4765 66 V/D 148 rs1192234880 0.6025 None gnomAD-4.0.0 1.36845E-06
4766 67 D/G 149 rs878898536 0.1573 None gnomAD-2.1.1 8.04E-06
4766 67 D/G 149 rs878898536 0.1573 None gnomAD-4.0.0 1.36846E-05
4766 67 D/N 149 rs981499527 0.1573 None gnomAD-2.1.1 1.61E-05
4766 67 D/N 149 rs981499527 0.1573 None gnomAD-4.0.0 3.42114E-06
4767 68 C/Y 151 rs1175326019 0.2435 None gnomAD-4.0.0 1.20032E-06
4768 69 G/S 152 rs727503652 0.2721 None gnomAD-2.1.1 6.07E-05
4768 69 G/S 152 rs727503652 0.2721 None gnomAD-3.1.2 7.23E-05
4768 69 G/S 152 rs727503652 0.2721 None gnomAD-4.0.0 5.39142E-05
4768 69 G/V 152 rs2081859448 0.2721 None gnomAD-3.1.2 6.57E-06
4768 69 G/V 152 rs2081859448 0.2721 None gnomAD-4.0.0 6.57134E-06
4769 70 E/G 153 None 0.6649 None gnomAD-4.0.0 1.59132E-06
4769 70 E/K 153 rs566108422 0.6649 None gnomAD-2.1.1 4.02E-05
4769 70 E/K 153 rs566108422 0.6649 None gnomAD-3.1.2 3.29E-05
4769 70 E/K 153 rs566108422 0.6649 None 1000 genomes 1.99681E-04
4769 70 E/K 153 rs566108422 0.6649 None gnomAD-4.0.0 1.4252E-05
4769 70 E/V 153 rs763092484 0.6649 None gnomAD-2.1.1 1.21E-05
4769 70 E/V 153 rs763092484 0.6649 None gnomAD-3.1.2 1.97E-05
4769 70 E/V 153 rs763092484 0.6649 None gnomAD-4.0.0 7.68647E-06
4770 71 Y/C 154 rs371552518 0.1214 None gnomAD-2.1.1 1.03546E-04
4770 71 Y/C 154 rs371552518 0.1214 None gnomAD-3.1.2 9.2E-05
4770 71 Y/C 154 rs371552518 0.1214 None gnomAD-4.0.0 1.05344E-04
4770 71 Y/H 154 None 0.1214 None gnomAD-4.0.0 1.20032E-06
4771 72 T/A 155 None 0.1898 None gnomAD-4.0.0 1.59131E-06
4771 72 T/I 155 rs762249414 0.1898 None gnomAD-2.1.1 8.04E-06
4771 72 T/I 155 rs762249414 0.1898 None gnomAD-4.0.0 3.18269E-06
4773 74 K/E 157 None 0.3247 None gnomAD-4.0.0 1.20032E-06
4773 74 K/R 157 None 0.3247 None gnomAD-4.0.0 1.59133E-06
4774 75 A/P 158 None 0.1013 None gnomAD-4.0.0 2.05267E-06
4774 75 A/S 158 rs1404878972 0.1013 None gnomAD-2.1.1 8.04E-06
4774 75 A/S 158 rs1404878972 0.1013 None gnomAD-4.0.0 5.4738E-06
4774 75 A/T 158 rs1404878972 0.1013 None gnomAD-4.0.0 3.42112E-06
4774 75 A/V 158 rs879085292 0.1013 None gnomAD-4.0.0 4.10535E-06
4776 77 N/D 161 rs727505309 0.1465 None gnomAD-2.1.1 4.02E-06
4776 77 N/D 161 rs727505309 0.1465 None gnomAD-4.0.0 1.36847E-06
4776 77 N/K 161 rs952268172 0.1465 None gnomAD-3.1.2 6.57E-06
4776 77 N/K 161 rs952268172 0.1465 None gnomAD-4.0.0 6.5716E-06
4776 77 N/S 161 rs369669941 0.1465 None gnomAD-2.1.1 3.18E-05
4776 77 N/S 161 rs369669941 0.1465 None gnomAD-3.1.2 1.31E-05
4776 77 N/S 161 rs369669941 0.1465 None gnomAD-4.0.0 9.91508E-06
4777 78 E/A 162 rs747457945 0.4939 None gnomAD-2.1.1 1.21E-05
4777 78 E/A 162 rs747457945 0.4939 None gnomAD-3.1.2 1.97E-05
4777 78 E/A 162 rs747457945 0.4939 None gnomAD-4.0.0 2.35483E-05
4777 78 E/K 162 rs1405978578 0.4939 None gnomAD-2.1.1 4.02E-06
4777 78 E/K 162 rs1405978578 0.4939 None gnomAD-4.0.0 1.59146E-06
4777 78 E/V 162 None 0.4939 None gnomAD-4.0.0 6.84233E-07
4778 79 Y/H 163 None 0.7659 None gnomAD-4.0.0 1.59141E-06
4779 80 G/D 164 None 0.2962 None gnomAD-4.0.0 1.59144E-06
4780 81 S/N 165 rs147879266 0.5270 None gnomAD-2.1.1 8.93E-05
4780 81 S/N 165 rs147879266 0.5270 None gnomAD-3.1.2 5.26E-05
4780 81 S/N 165 rs147879266 0.5270 None 1000 genomes 1.99681E-04
4780 81 S/N 165 rs147879266 0.5270 DCM
Literature None
4780 81 S/N 165 rs147879266 0.5270 None gnomAD-4.0.0 4.39978E-05
4780 81 S/R 165 rs1574048697 0.5270 None gnomAD-4.0.0 1.59164E-06
4781 82 V/I 166 rs2081852478 0.2532 None gnomAD-4.0.0 1.59172E-06
4782 83 S/G 168 None 0.4435 None gnomAD-4.0.0 1.50542E-05
4782 83 S/N 168 rs281864908 0.4435 None gnomAD-4.0.0 6.843E-07
4782 83 S/T 168 rs281864908 0.4435 None gnomAD-2.1.1 4.03E-06
4782 83 S/T 168 rs281864908 0.4435 None gnomAD-4.0.0 6.843E-07
4783 84 C/S 169 rs748913179 0.1304 None gnomAD-2.1.1 4.03E-06
4783 84 C/S 169 rs748913179 0.1304 None gnomAD-4.0.0 1.59194E-06
4784 85 T/I 171 rs376517129 0.3843 None gnomAD-2.1.1 8.06E-06
4784 85 T/I 171 rs376517129 0.3843 None gnomAD-3.1.2 6.57E-06
4784 85 T/I 171 rs376517129 0.3843 None gnomAD-4.0.0 1.85942E-06
4784 85 T/P 171 rs1244858847 0.3843 None gnomAD-2.1.1 1.21E-05
4784 85 T/R 171 None 0.3843 None gnomAD-4.0.0 6.84345E-07
4785 86 A/T 172 rs755901072 0.0942 None gnomAD-2.1.1 2.01E-05
4785 86 A/T 172 rs755901072 0.0942 None gnomAD-4.0.0 1.2319E-05
4786 87 T/I 173 None 0.4208 None gnomAD-4.0.0 1.59275E-06
4786 87 T/R 173 rs752484250 0.4208 None gnomAD-2.1.1 8.06E-06
4786 87 T/R 173 rs752484250 0.4208 None gnomAD-4.0.0 4.77824E-06
4788 89 T/I 175 None 0.4293 None gnomAD-4.0.0 1.20032E-06