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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14765 1 G/D 1 rs772788193 0.2453 None gnomAD-2.1.1 1.21E-05
14765 1 G/D 1 rs772788193 0.2453 None gnomAD-3.1.2 6.57E-06
14765 1 G/D 1 rs772788193 0.2453 None gnomAD-4.0.0 5.13011E-06
14765 1 G/S 1 None 0.2453 None gnomAD-4.0.0 1.5935E-06
14765 1 G/V 1 rs772788193 0.2453 None gnomAD-2.1.1 4.03E-06
14765 1 G/V 1 rs772788193 0.2453 None gnomAD-4.0.0 1.59337E-06
14766 2 L/I 3 None 0.2818 None gnomAD-4.0.0 1.59344E-06
14767 3 L/V 4 None 0.4562 None gnomAD-4.0.0 1.59332E-06
14768 4 R/K 5 None 0.5138 None gnomAD-4.0.0 2.40064E-06
14769 5 P/T 7 None 0.4559 None gnomAD-4.0.0 1.59324E-06
14771 7 K/E 9 None 0.7933 None gnomAD-4.0.0 4.80129E-06
14772 8 D/H 11 rs1426162588 0.5964 None gnomAD-3.1.2 6.58E-06
14772 8 D/H 11 rs1426162588 0.5964 None gnomAD-4.0.0 1.24002E-06
14772 8 D/Y 11 rs1426162588 0.5964 None gnomAD-2.1.1 4.03E-06
14772 8 D/Y 11 rs1426162588 0.5964 None gnomAD-4.0.0 2.05365E-06
14773 9 V/I 13 rs2059498760 0.2022 None gnomAD-4.0.0 1.59312E-06
14774 10 T/A 14 rs748139496 0.9568 None gnomAD-2.1.1 4.03E-06
14774 10 T/A 14 rs748139496 0.9568 None gnomAD-4.0.0 3.18608E-06
14774 10 T/I 14 rs930837832 0.9568 None gnomAD-2.1.1 4.03E-06
14774 10 T/I 14 rs930837832 0.9568 None gnomAD-4.0.0 1.5931E-06
14775 11 V/A 16 None 0.3004 None gnomAD-4.0.0 1.59311E-06
14775 11 V/L 16 rs540115992 0.3004 None gnomAD-2.1.1 2.82E-05
14775 11 V/L 16 rs540115992 0.3004 None gnomAD-3.1.2 1.97E-05
14775 11 V/L 16 rs540115992 0.3004 None gnomAD-4.0.0 6.82023E-06
14775 11 V/M 16 rs540115992 0.3004 None gnomAD-2.1.1 8.94E-05
14775 11 V/M 16 rs540115992 0.3004 None gnomAD-3.1.2 2.63E-05
14775 11 V/M 16 rs540115992 0.3004 None 1000 genomes 3.99361E-04
14775 11 V/M 16 rs540115992 0.3004 None gnomAD-4.0.0 2.04592E-05
14776 12 T/I 18 rs1250844275 0.5440 None gnomAD-2.1.1 4.03E-06
14776 12 T/I 18 rs1250844275 0.5440 None gnomAD-4.0.0 1.3691E-06
14777 13 A/S 23 None 0.4261 None gnomAD-4.0.0 1.59316E-06
14777 13 A/T 23 rs746862383 0.4261 None gnomAD-2.1.1 4.03E-06
14778 14 G/E 24 rs1342716683 0.3267 None gnomAD-2.1.1 3.19E-05
14778 14 G/E 24 rs1342716683 0.3267 None gnomAD-3.1.2 6.58E-06
14778 14 G/E 24 rs1342716683 0.3267 None gnomAD-4.0.0 1.02595E-05
14779 15 E/A 25 None 0.3478 None gnomAD-4.0.0 2.40064E-06
14779 15 E/K 25 rs1262894259 0.3478 None gnomAD-3.1.2 6.57E-06
14779 15 E/K 25 rs1262894259 0.3478 None gnomAD-4.0.0 6.57479E-06
14779 15 E/Q 25 rs1262894259 0.3478 None gnomAD-4.0.0 1.3691E-06
14780 16 T/A 26 rs1279825946 0.3424 None gnomAD-2.1.1 4.03E-06
14780 16 T/A 26 rs1279825946 0.3424 None gnomAD-4.0.0 3.18617E-06
14782 18 T/A 29 rs780249806 0.3243 None gnomAD-2.1.1 4.03E-06
14782 18 T/A 29 rs780249806 0.3243 None gnomAD-4.0.0 1.5931E-06
14783 19 F/L 30 None 0.1107 None gnomAD-4.0.0 6.84556E-07
14784 20 D/N 31 None 0.4485 None gnomAD-2.1.1 2.01E-05
14784 20 D/N 31 None 0.4485 None gnomAD-3.1.2 1.32E-05
14784 20 D/N 31 None 0.4485 None gnomAD-4.0.0 2.9142E-05
14784 20 D/Y 31 rs72677216 0.4485 None gnomAD-2.1.1 8.05E-06
14784 20 D/Y 31 rs72677216 0.4485 None gnomAD-3.1.2 1.97E-05
14784 20 D/Y 31 rs72677216 0.4485 None gnomAD-4.0.0 9.30066E-06
14785 21 C/F 33 rs757662563 0.1085 None gnomAD-2.1.1 1.21E-05
14785 21 C/F 33 rs757662563 0.1085 None gnomAD-4.0.0 3.18631E-06
14786 22 E/D 34 rs1480354933 0.2268 None gnomAD-2.1.1 1.21E-05
14786 22 E/D 34 rs1480354933 0.2268 None gnomAD-4.0.0 3.18642E-06
14786 22 E/K 34 rs764555693 0.2268 None gnomAD-2.1.1 2.01E-05
14786 22 E/K 34 rs764555693 0.2268 None gnomAD-3.1.2 6.58E-06
14786 22 E/K 34 rs764555693 0.2268 None gnomAD-4.0.0 8.06041E-06
14787 23 L/F 35 None 0.1353 None gnomAD-4.0.0 6.84568E-07
14787 23 L/I 35 None 0.1353 None gnomAD-4.0.0 1.36914E-06
14788 24 S/F 38 rs2059491089 0.1442 None gnomAD-4.0.0 3.18642E-06
14788 24 S/P 38 rs761110890 0.1442 None gnomAD-2.1.1 4.03E-06
14788 24 S/P 38 rs761110890 0.1442 None gnomAD-4.0.0 6.84569E-07
14788 24 S/T 38 None 0.1442 None gnomAD-4.0.0 6.84569E-07
14789 25 Y/C 40 rs397517577 0.1837 None gnomAD-2.1.1 2.5E-05
14789 25 Y/C 40 rs397517577 0.1837 None gnomAD-3.1.2 2.63E-05
14789 25 Y/C 40 rs397517577 0.1837 None gnomAD-4.0.0 3.47208E-05
14790 26 E/K 41 rs762712953 0.4721 None gnomAD-2.1.1 2.5E-05
14790 26 E/K 41 rs762712953 0.4721 None gnomAD-3.1.2 1.97E-05
14790 26 E/K 41 rs762712953 0.4721 None gnomAD-4.0.0 8.6807E-06
14790 26 E/Q 41 rs762712953 0.4721 None gnomAD-3.1.2 6.58E-06
14790 26 E/Q 41 rs762712953 0.4721 None gnomAD-4.0.0 6.57609E-06
14791 27 D/E 43 rs772552324 0.9885 None gnomAD-2.1.1 4.03E-06
14791 27 D/E 43 rs772552324 0.9885 None gnomAD-4.0.0 6.84602E-07
14792 28 I/F 44 rs536313527 0.1737 None gnomAD-3.1.2 6.57E-06
14792 28 I/F 44 rs536313527 0.1737 None gnomAD-4.0.0 1.31377E-05
14792 28 I/M 44 None 0.1737 None gnomAD-4.0.0 6.84613E-07
14792 28 I/N 44 rs747654057 0.1737 None gnomAD-2.1.1 2.82E-05
14792 28 I/N 44 rs747654057 0.1737 None gnomAD-3.1.2 1.32E-05
14792 28 I/N 44 rs747654057 0.1737 None gnomAD-4.0.0 3.53426E-05
14792 28 I/T 44 rs747654057 0.1737 None gnomAD-2.1.1 1.61E-05
14792 28 I/T 44 rs747654057 0.1737 None gnomAD-3.1.2 3.29E-05
14792 28 I/T 44 rs747654057 0.1737 None gnomAD-4.0.0 6.8205E-06
14792 28 I/V 44 None 0.1737 None gnomAD-4.0.0 4.8013E-06
14793 29 P/A 45 rs1401276737 0.7252 None gnomAD-3.1.2 1.32E-05
14793 29 P/A 45 rs1401276737 0.7252 None gnomAD-4.0.0 1.31522E-05
14793 29 P/L 45 None 0.7252 None gnomAD-4.0.0 1.59342E-06
14793 29 P/Q 45 rs768644303 0.7252 None gnomAD-2.1.1 4.03E-06
14793 29 P/Q 45 rs768644303 0.7252 None gnomAD-4.0.0 3.18684E-06
14794 30 V/G 46 rs779834438 0.2551 None gnomAD-2.1.1 4.03E-06
14794 30 V/G 46 rs779834438 0.2551 None gnomAD-4.0.0 2.73842E-06
14797 33 Y/C 49 rs876658060 0.2091 None gnomAD-4.0.0 1.59354E-06
14797 33 Y/H 49 None 0.2091 None gnomAD-4.0.0 1.59354E-06
14801 37 K/E 55 rs1313794493 0.7661 None gnomAD-2.1.1 3.19E-05
14801 37 K/E 55 rs1313794493 0.7661 None gnomAD-3.1.2 6.58E-06
14801 37 K/E 55 rs1313794493 0.7661 None gnomAD-4.0.0 6.57652E-06
14801 37 K/R 55 None 0.7661 None gnomAD-4.0.0 3.18748E-06
14802 38 K/E 56 None 0.3362 None gnomAD-4.0.0 3.60097E-06
14803 39 L/P 58 None 0.2262 None gnomAD-4.0.0 1.59389E-06
14803 39 L/Q 58 rs1332557578 0.2262 None gnomAD-2.1.1 4.03E-06
14803 39 L/Q 58 rs1332557578 0.2262 None gnomAD-4.0.0 1.59389E-06
14803 39 L/V 58 rs757335885 0.2262 None gnomAD-2.1.1 8.06E-06
14804 40 E/V 59 None 0.5516 None gnomAD-4.0.0 1.20032E-06
14805 41 P/S 70 None 0.6197 None gnomAD-4.0.0 6.8475E-07
14806 42 S/T 73 rs778340859 0.2818 None gnomAD-2.1.1 8.08E-06
14806 42 S/T 73 rs778340859 0.2818 None gnomAD-3.1.2 6.58E-06
14806 42 S/T 73 rs778340859 0.2818 None gnomAD-4.0.0 2.56689E-06
14807 43 D/N 111 rs753053245 1.0301 None gnomAD-2.1.1 1.08E-05
14807 43 D/N 111 rs753053245 1.0301 None gnomAD-3.1.2 1.32E-05
14807 43 D/N 111 rs753053245 1.0301 None gnomAD-4.0.0 2.60515E-05
14808 44 K/E 115 None 0.4825 None gnomAD-4.0.0 1.20032E-06
14808 44 K/N 115 rs762657962 0.4825 None gnomAD-2.1.1 4.04E-06
14808 44 K/N 115 rs762657962 0.4825 None gnomAD-4.0.0 1.59544E-06
14808 44 K/T 115 rs374419129 0.4825 None gnomAD-2.1.1 4.3E-05
14808 44 K/T 115 rs374419129 0.4825 None gnomAD-3.1.2 7.23E-05
14808 44 K/T 115 rs374419129 0.4825 None 1000 genomes 3.99361E-04
14808 44 K/T 115 rs374419129 0.4825 None gnomAD-4.0.0 4.89972E-05
14809 45 V/L 121 rs775225695 0.1720 None gnomAD-2.1.1 5.09E-06
14809 45 V/L 121 rs775225695 0.1720 None gnomAD-3.1.2 6.6E-06
14809 45 V/L 121 rs775225695 0.1720 None gnomAD-4.0.0 6.46488E-06
14809 45 V/M 121 rs775225695 0.1720 None gnomAD-3.1.2 6.6E-06
14809 45 V/M 121 rs775225695 0.1720 None gnomAD-4.0.0 6.46488E-06
14812 48 R/C 125 rs745698096 0.6773 None gnomAD-2.1.1 4.69E-06
14812 48 R/C 125 rs745698096 0.6773 None gnomAD-4.0.0 3.51418E-06
14812 48 R/H 125 rs375574483 0.6773 None gnomAD-2.1.1 4.5E-05
14812 48 R/H 125 rs375574483 0.6773 None gnomAD-3.1.2 3.3E-05
14812 48 R/H 125 rs375574483 0.6773 None gnomAD-4.0.0 4.19527E-05
14812 48 R/S 125 rs745698096 0.6773 None gnomAD-2.1.1 4.69E-06
14812 48 R/S 125 rs745698096 0.6773 None gnomAD-3.1.2 1.32E-05
14812 48 R/S 125 rs745698096 0.6773 None gnomAD-4.0.0 1.14326E-05
14813 49 S/T 127 None 0.5044 None gnomAD-4.0.0 1.68559E-06
14814 50 E/D 130 None 0.9390 None gnomAD-4.0.0 6.99536E-07
14815 51 G/E 131 rs1157011423 0.2868 None gnomAD-2.1.1 3.19E-05
14815 51 G/E 131 rs1157011423 0.2868 None gnomAD-3.1.2 1.32E-05
14815 51 G/E 131 rs1157011423 0.2868 None gnomAD-4.0.0 8.85963E-06
14815 51 G/R 131 rs371177020 0.2868 None gnomAD-3.1.2 6.59E-06
14815 51 G/R 131 rs371177020 0.2868 None gnomAD-4.0.0 6.58874E-06
14818 54 H/Y 136 None 0.1630 None gnomAD-4.0.0 6.97275E-07
14819 55 T/I 137 rs778014249 0.1769 None gnomAD-2.1.1 8.18E-05
14819 55 T/I 137 rs778014249 0.1769 None gnomAD-3.1.2 5.93E-05
14819 55 T/I 137 rs778014249 0.1769 None gnomAD-4.0.0 3.46377E-05
14821 57 T/I 139 rs756640775 0.1921 None gnomAD-2.1.1 2.14E-05
14821 57 T/I 139 rs756640775 0.1921 None gnomAD-4.0.0 4.15124E-06
14821 57 T/S 139 None 0.1921 None gnomAD-4.0.0 3.45799E-06
14822 58 L/R 140 rs1235710023 0.1911 None gnomAD-2.1.1 4.26E-06
14822 58 L/R 140 rs1235710023 0.1911 None gnomAD-3.1.2 6.58E-06
14822 58 L/R 140 rs1235710023 0.1911 None gnomAD-4.0.0 3.92008E-06
14823 59 R/S 141 rs267599051 0.4218 None gnomAD-2.1.1 4.23E-06
14823 59 R/S 141 rs267599051 0.4218 None gnomAD-4.0.0 1.62536E-06
14824 60 D/H 143 None 0.5694 None gnomAD-4.0.0 6.90164E-07
14824 60 D/N 143 rs781775537 0.5694 None gnomAD-2.1.1 4.21E-06
14824 60 D/N 143 rs781775537 0.5694 None gnomAD-4.0.0 1.38033E-06
14824 60 D/V 143 rs1165288151 0.5694 None gnomAD-3.1.2 6.58E-06
14824 60 D/V 143 rs1165288151 0.5694 None gnomAD-4.0.0 3.12266E-06
14824 60 D/Y 143 None 0.5694 None gnomAD-4.0.0 2.76066E-06
14825 61 V/A 144 rs1213950767 0.1518 None gnomAD-2.1.1 8.38E-06
14825 61 V/A 144 rs1213950767 0.1518 None gnomAD-3.1.2 6.58E-06
14825 61 V/A 144 rs1213950767 0.1518 None gnomAD-4.0.0 8.114E-06
14827 63 L/I 146 None 1.0604 None gnomAD-4.0.0 1.62002E-06
14829 65 D/E 149 rs1559907952 0.3051 None gnomAD-2.1.1 4.16E-06
14829 65 D/E 149 rs1559907952 0.3051 None gnomAD-4.0.0 6.88732E-07
14830 66 A/T 151 rs1355448697 0.4005 None gnomAD-2.1.1 8.34E-06
14830 66 A/T 151 rs1355448697 0.4005 None gnomAD-3.1.2 1.32E-05
14830 66 A/T 151 rs1355448697 0.4005 None gnomAD-4.0.0 7.78756E-06
14831 67 G/E 152 rs751929345 0.2219 None gnomAD-2.1.1 4.03E-05
14831 67 G/E 152 rs751929345 0.2219 None gnomAD-3.1.2 5.93E-05
14831 67 G/E 152 rs751929345 0.2219 None gnomAD-4.0.0 1.8701E-05
14831 67 G/R 152 rs1286071109 0.2219 None gnomAD-2.1.1 4.14E-06
14831 67 G/R 152 rs1286071109 0.2219 None gnomAD-4.0.0 1.6143E-06
14832 68 E/G 153 rs1354845947 0.4591 None gnomAD-4.0.0 1.61298E-06
14833 69 V/I 154 rs373168798 0.1046 None gnomAD-2.1.1 4.73E-05
14833 69 V/I 154 rs373168798 0.1046 None gnomAD-3.1.2 2.0409E-04
14833 69 V/I 154 rs373168798 0.1046 None gnomAD-4.0.0 3.79834E-05
14834 70 Q/P 155 None 0.2845 None gnomAD-4.0.0 6.86964E-07
14835 71 L/I 156 None 0.0876 None gnomAD-4.0.0 1.3741E-06
14835 71 L/Q 156 rs1559907686 0.0876 None gnomAD-4.0.0 2.40065E-06
14836 72 T/A 157 rs761382291 0.1801 None gnomAD-2.1.1 4.1E-06
14836 72 T/A 157 rs761382291 0.1801 None gnomAD-4.0.0 6.00167E-06
14839 75 D/N 161 rs753336110 1.0277 None gnomAD-2.1.1 4.09E-06
14839 75 D/N 161 rs753336110 1.0277 None gnomAD-4.0.0 6.86916E-07
14840 76 F/L 162 rs1296759910 0.2380 None gnomAD-2.1.1 4.08E-06
14840 76 F/L 162 rs1296759910 0.2380 None gnomAD-4.0.0 4.81645E-06
14840 76 F/S 162 rs886055276 0.2380 None gnomAD-2.1.1 4.08E-06
14840 76 F/S 162 rs886055276 0.2380 None gnomAD-4.0.0 1.60548E-06
14840 76 F/Y 162 rs886055276 0.2380 None gnomAD-4.0.0 6.42191E-06
14841 77 K/E 163 rs2058863893 0.5921 None gnomAD-4.0.0 3.43384E-06
14842 78 T/I 164 rs370782364 0.1565 None gnomAD-2.1.1 1.45E-05
14842 78 T/I 164 rs370782364 0.1565 None gnomAD-4.0.0 4.81056E-06
14842 78 T/S 164 rs763625555 0.1565 None gnomAD-2.1.1 3.27E-05
14842 78 T/S 164 rs763625555 0.1565 None gnomAD-4.0.0 2.0879E-05
14843 79 H/Q 165 None 0.6986 None gnomAD-4.0.0 6.87894E-07
14844 80 A/G 166 rs1053826157 0.0995 None gnomAD-4.0.0 2.06323E-06
14844 80 A/T 166 rs772053966 0.0995 None gnomAD-2.1.1 2.47E-05
14844 80 A/T 166 rs772053966 0.0995 None gnomAD-4.0.0 1.10051E-05
14845 81 N/H 168 None 0.4986 None gnomAD-4.0.0 6.8765E-07
14845 81 N/S 168 None 0.4986 None gnomAD-4.0.0 3.22103E-06