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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15968 1 F/L 3 rs1261511850 0.4942 None gnomAD-2.1.1 4.03E-06
15968 1 F/L 3 rs1261511850 0.4942 None gnomAD-4.0.0 1.5937E-06
15969 2 K/I 4 rs2057450267 1.0327 None gnomAD-3.1.2 6.58E-06
15969 2 K/I 4 rs2057450267 1.0327 None gnomAD-4.0.0 6.58345E-06
15971 4 G/V 11 None 0.3699 None gnomAD-4.0.0 1.20032E-06
15973 6 E/K 14 rs375099780 0.6587 None gnomAD-2.1.1 2.15E-05
15973 6 E/K 14 rs375099780 0.6587 None gnomAD-3.1.2 2.63E-05
15973 6 E/K 14 rs375099780 0.6587 None gnomAD-4.0.0 5.58146E-06
15974 7 V/I 16 rs1346269011 0.1487 None gnomAD-2.1.1 4.03E-06
15974 7 V/I 16 rs1346269011 0.1487 None gnomAD-4.0.0 1.36925E-06
15975 8 I/T 18 rs755834931 0.6326 None gnomAD-2.1.1 8.07E-06
15975 8 I/T 18 rs755834931 0.6326 None gnomAD-3.1.2 6.58E-06
15975 8 I/T 18 rs755834931 0.6326 None gnomAD-4.0.0 2.48048E-06
15976 9 V/A 23 rs2057447237 0.3480 None gnomAD-4.0.0 7.96706E-06
15977 10 P/S 24 None 0.4877 None gnomAD-4.0.0 1.59343E-06
15979 12 P/L 26 rs184815126 0.4451 None gnomAD-2.1.1 8.96E-05
15979 12 P/L 26 rs184815126 0.4451 None gnomAD-3.1.2 1.44859E-04
15979 12 P/L 26 rs184815126 0.4451 None 1000 genomes 1.99681E-04
15979 12 P/L 26 rs184815126 0.4451 None gnomAD-4.0.0 1.19057E-04
15979 12 P/S 26 rs1473380697 0.4451 None gnomAD-2.1.1 3.19E-05
15979 12 P/S 26 rs1473380697 0.4451 None gnomAD-3.1.2 6.58E-06
15979 12 P/S 26 rs1473380697 0.4451 None gnomAD-4.0.0 6.58458E-06
15980 13 I/N 28 None 0.1151 None gnomAD-4.0.0 1.59336E-06
15980 13 I/T 28 rs1299741531 0.1151 None gnomAD-2.1.1 8.07E-06
15980 13 I/T 28 rs1299741531 0.1151 None gnomAD-4.0.0 3.18672E-06
15980 13 I/V 28 rs780634456 0.1151 None gnomAD-2.1.1 6.05E-05
15980 13 I/V 28 rs780634456 0.1151 None gnomAD-3.1.2 2.63E-05
15980 13 I/V 28 rs780634456 0.1151 None gnomAD-4.0.0 2.66651E-05
15981 14 T/M 29 rs150364979 0.4798 None gnomAD-2.1.1 3.94E-05
15981 14 T/M 29 rs150364979 0.4798 None gnomAD-3.1.2 4.61E-05
15981 14 T/M 29 rs150364979 0.4798 None 1000 genomes 3.99361E-04
15981 14 T/M 29 rs150364979 0.4798 None gnomAD-4.0.0 3.53451E-05
15984 17 V/L 33 rs766367585 0.2072 None gnomAD-2.1.1 2.02E-05
15984 17 V/L 33 rs766367585 0.2072 None gnomAD-3.1.2 1.32E-05
15984 17 V/L 33 rs766367585 0.2072 None gnomAD-4.0.0 1.15473E-05
15986 19 S/G 35 None 0.2181 None gnomAD-4.0.0 1.59334E-06
15986 19 S/R 35 None 0.2181 None gnomAD-4.0.0 1.59334E-06
15987 20 T/A 38 None 0.9782 None gnomAD-4.0.0 3.60097E-06
15987 20 T/I 38 rs1429436042 0.9782 None gnomAD-2.1.1 7.17E-06
15987 20 T/I 38 rs1429436042 0.9782 None gnomAD-3.1.2 1.32E-05
15987 20 T/I 38 rs1429436042 0.9782 None gnomAD-4.0.0 3.10075E-06
15988 21 G/A 40 rs1182070042 0.3740 None gnomAD-2.1.1 4.04E-06
15988 21 G/A 40 rs1182070042 0.3740 None gnomAD-3.1.2 6.59E-06
15988 21 G/A 40 rs1182070042 0.3740 None gnomAD-4.0.0 1.86046E-06
15988 21 G/D 40 None 0.3740 None gnomAD-4.0.0 1.36924E-06
15989 22 Y/S 41 rs2057440561 0.6587 None gnomAD-3.1.2 6.58E-06
15989 22 Y/S 41 rs2057440561 0.6587 None gnomAD-4.0.0 2.48052E-06
15990 23 P/L 42 rs1253292798 0.2120 None gnomAD-2.1.1 4.04E-06
15990 23 P/L 42 rs1253292798 0.2120 None gnomAD-4.0.0 1.59339E-06
15990 23 P/T 42 rs2057439809 0.2120 None gnomAD-3.1.2 6.59E-06
15990 23 P/T 42 rs2057439809 0.2120 None gnomAD-4.0.0 6.58597E-06
15991 24 R/K 43 rs2057438704 0.3335 None gnomAD-3.1.2 6.59E-06
15991 24 R/K 43 rs2057438704 0.3335 None gnomAD-4.0.0 3.8489E-06
15993 26 T/A 45 rs1483141685 0.6717 None gnomAD-2.1.1 4.04E-06
15993 26 T/A 45 rs1483141685 0.6717 None gnomAD-3.1.2 6.58E-06
15993 26 T/A 45 rs1483141685 0.6717 None gnomAD-4.0.0 3.72059E-06
15993 26 T/N 45 rs727503622 0.6717 None gnomAD-2.1.1 4.85E-05
15993 26 T/N 45 rs727503622 0.6717 None gnomAD-3.1.2 3.95E-05
15993 26 T/N 45 rs727503622 0.6717 None gnomAD-4.0.0 5.95271E-05
15995 28 T/I 47 rs1205858771 0.4497 None gnomAD-2.1.1 1.21E-05
15995 28 T/I 47 rs1205858771 0.4497 None gnomAD-4.0.0 4.78025E-06
15996 29 W/R 48 rs1324349099 0.1495 None gnomAD-2.1.1 4.04E-06
15996 29 W/R 48 rs1324349099 0.1495 None gnomAD-4.0.0 1.20032E-06
15997 30 C/R 49 rs2057436649 0.1407 None gnomAD-4.0.0 2.05383E-06
16000 33 D/H 52 rs201388509 1.2004 None gnomAD-2.1.1 8.75393E-04
16000 33 D/H 52 rs201388509 1.2004 None gnomAD-3.1.2 4.74002E-04
16000 33 D/H 52 rs201388509 1.2004 None gnomAD-4.0.0 6.67874E-04
16001 34 K/T 55 None 0.8061 None gnomAD-4.0.0 6.8462E-07
16002 35 V/A 56 None 0.5193 None gnomAD-4.0.0 1.20032E-06
16003 36 L/P 58 None 0.2498 None gnomAD-4.0.0 4.80129E-06
16003 36 L/Q 58 None 0.2498 None gnomAD-4.0.0 1.20032E-06
16003 36 L/V 58 rs2057435280 0.2498 None gnomAD-4.0.0 2.40064E-06
16004 37 E/Q 69 rs1305953554 0.9024 None gnomAD-2.1.1 3.19E-05
16004 37 E/Q 69 rs1305953554 0.9024 None gnomAD-3.1.2 1.32E-05
16004 37 E/Q 69 rs1305953554 0.9024 None gnomAD-4.0.0 1.31673E-05
16005 38 T/R 70 rs557711303 0.6173 None gnomAD-2.1.1 4.45E-05
16005 38 T/R 70 rs557711303 0.6173 None gnomAD-3.1.2 6.58E-06
16005 38 T/R 70 rs557711303 0.6173 None 1000 genomes 1.99681E-04
16005 38 T/R 70 rs557711303 0.6173 None gnomAD-4.0.0 1.17816E-05
16007 40 D/A 102 None 1.2075 None gnomAD-4.0.0 1.20032E-06
16007 40 D/G 102 None 1.2075 None gnomAD-4.0.0 1.20032E-06
16008 41 R/Q 115 rs771224957 0.2611 None gnomAD-2.1.1 4.85E-05
16008 41 R/Q 115 rs771224957 0.2611 None gnomAD-3.1.2 2.63E-05
16008 41 R/Q 115 rs771224957 0.2611 None gnomAD-4.0.0 2.4806E-05
16008 41 R/W 115 rs374233884 0.2611 None gnomAD-2.1.1 4.85E-05
16008 41 R/W 115 rs374233884 0.2611 None gnomAD-3.1.2 1.32E-05
16008 41 R/W 115 rs374233884 0.2611 None gnomAD-4.0.0 2.72881E-05
16011 44 M/K 123 rs754476448 0.2519 None gnomAD-2.1.1 4.04E-06
16011 44 M/K 123 rs754476448 0.2519 None gnomAD-4.0.0 1.59342E-06
16011 44 M/L 123 rs2057430737 0.2519 None gnomAD-3.1.2 6.58E-06
16011 44 M/L 123 rs2057430737 0.2519 None gnomAD-4.0.0 6.58432E-06
16012 45 K/T 125 rs2057430031 0.4929 None gnomAD-3.1.2 6.58E-06
16012 45 K/T 125 rs2057430031 0.4929 None gnomAD-4.0.0 6.58215E-06
16013 46 T/I 127 rs746576156 0.3313 None gnomAD-2.1.1 8.08E-06
16013 46 T/I 127 rs746576156 0.3313 None gnomAD-3.1.2 6.59E-06
16013 46 T/I 127 rs746576156 0.3313 None gnomAD-4.0.0 3.10079E-06
16013 46 T/N 127 rs746576156 0.3313 None gnomAD-2.1.1 8.08E-06
16013 46 T/N 127 rs746576156 0.3313 None gnomAD-3.1.2 6.59E-06
16013 46 T/N 127 rs746576156 0.3313 None gnomAD-4.0.0 2.48063E-06
16014 47 L/S 130 None 0.3538 None gnomAD-4.0.0 7.20193E-06
16016 49 A/T 134 None 0.3965 None gnomAD-4.0.0 3.60097E-06
16017 50 Y/C 135 None 0.2920 None gnomAD-4.0.0 6.84615E-07
16017 50 Y/S 135 None 0.2920 None gnomAD-4.0.0 6.84615E-06
16018 51 A/G 136 rs1366008715 0.0996 None gnomAD-2.1.1 7.17E-06
16018 51 A/G 136 rs1366008715 0.0996 None gnomAD-3.1.2 6.59E-06
16018 51 A/G 136 rs1366008715 0.0996 None gnomAD-4.0.0 5.13222E-06
16018 51 A/S 136 rs1451009964 0.0996 None gnomAD-2.1.1 7.17E-06
16018 51 A/S 136 rs1451009964 0.0996 None gnomAD-3.1.2 6.58E-06
16018 51 A/S 136 rs1451009964 0.0996 None gnomAD-4.0.0 5.13181E-06
16019 52 E/A 137 None 0.2772 None gnomAD-4.0.0 3.18685E-06
16019 52 E/K 137 rs758399903 0.2772 None gnomAD-2.1.1 4.85E-05
16019 52 E/K 137 rs758399903 0.2772 None gnomAD-3.1.2 1.98E-05
16019 52 E/K 137 rs758399903 0.2772 None gnomAD-4.0.0 2.29462E-05
16024 57 P/A 143 rs750357667 0.4409 None gnomAD-2.1.1 8.08E-06
16024 57 P/A 143 rs750357667 0.4409 None gnomAD-3.1.2 3.29E-05
16024 57 P/A 143 rs750357667 0.4409 None gnomAD-4.0.0 5.58132E-06
16024 57 P/L 143 None 0.4409 None gnomAD-4.0.0 1.20032E-06
16024 57 P/S 143 rs750357667 0.4409 None gnomAD-2.1.1 4.04E-06
16024 57 P/S 143 rs750357667 0.4409 None gnomAD-4.0.0 2.73843E-05
16025 58 S/N 144 rs727504720 0.0999 None gnomAD-4.0.0 1.59335E-06
16025 58 S/R 144 rs1185643168 0.0999 None gnomAD-2.1.1 4.04E-06
16025 58 S/R 144 rs1185643168 0.0999 None gnomAD-4.0.0 1.59335E-06
16027 60 R/C 146 rs765032242 0.7607 None gnomAD-2.1.1 2.87E-05
16027 60 R/C 146 rs765032242 0.7607 None gnomAD-3.1.2 1.98E-05
16027 60 R/C 146 rs765032242 0.7607 None gnomAD-4.0.0 1.42637E-05
16027 60 R/H 146 rs757013471 0.7607 None gnomAD-2.1.1 5.73E-05
16027 60 R/H 146 rs757013471 0.7607 None gnomAD-3.1.2 6.58E-06
16027 60 R/H 146 rs757013471 0.7607 None gnomAD-4.0.0 1.86038E-05
16029 62 D/Y 149 None 0.1346 None gnomAD-4.0.0 1.5933E-06
16030 63 K/E 151 rs764470678 0.4269 None gnomAD-2.1.1 4.04E-06
16030 63 K/E 151 rs764470678 0.4269 None gnomAD-4.0.0 1.20032E-06
16030 63 K/R 151 rs1262384504 0.4269 None gnomAD-2.1.1 4.04E-06
16030 63 K/R 151 rs1262384504 0.4269 None gnomAD-4.0.0 3.18655E-06
16031 64 G/D 152 None 0.1618 None gnomAD-4.0.0 1.20032E-06
16032 65 I/T 153 rs879171203 0.4580 None gnomAD-2.1.1 4.04E-06
16032 65 I/T 153 rs879171203 0.4580 None gnomAD-4.0.0 1.59322E-06
16032 65 I/V 153 rs794729443 0.4580 None gnomAD-2.1.1 4.04E-06
16032 65 I/V 153 rs794729443 0.4580 None gnomAD-4.0.0 1.59324E-06
16033 66 Y/H 154 None 0.1030 None gnomAD-4.0.0 1.59323E-06
16034 67 T/I 155 rs1247903486 0.2320 None gnomAD-2.1.1 7.67E-05
16034 67 T/I 155 rs1247903486 0.2320 None gnomAD-3.1.2 1.90938E-04
16034 67 T/I 155 rs1247903486 0.2320 None gnomAD-4.0.0 6.02951E-05
16034 67 T/K 155 None 0.2320 None gnomAD-4.0.0 1.59333E-06
16035 68 L/V 156 rs371209083 0.1188 None gnomAD-2.1.1 4.04E-06
16035 68 L/V 156 rs371209083 0.1188 None gnomAD-3.1.2 1.32E-05
16035 68 L/V 156 rs371209083 0.1188 None gnomAD-4.0.0 5.13148E-06
16036 69 K/Q 157 rs886055271 0.4857 None gnomAD-4.0.0 4.79216E-06
16039 72 N/K 161 None 0.1678 None gnomAD-4.0.0 1.20032E-06
16040 73 R/C 162 rs774736458 0.7559 None gnomAD-2.1.1 2.02E-05
16040 73 R/C 162 rs774736458 0.7559 None gnomAD-3.1.2 2.64E-05
16040 73 R/C 162 rs774736458 0.7559 None gnomAD-4.0.0 1.24044E-05
16040 73 R/H 162 rs956699957 0.7559 None gnomAD-2.1.1 1.21E-05
16040 73 R/H 162 rs956699957 0.7559 None gnomAD-3.1.2 2.63E-05
16040 73 R/H 162 rs956699957 0.7559 None gnomAD-4.0.0 1.42627E-05
16041 74 V/M 163 rs2057419029 0.6888 None gnomAD-4.0.0 1.36929E-06
16043 76 T/A 165 None 0.3460 None gnomAD-4.0.0 1.59361E-06
16043 76 T/I 165 None 0.3460 None gnomAD-4.0.0 4.78097E-06
16043 76 T/R 165 rs2057418334 0.3460 None gnomAD-3.1.2 6.58E-06
16043 76 T/R 165 rs2057418334 0.3460 None gnomAD-4.0.0 6.58406E-06
16048 81 I/T 172 rs749678590 0.1178 None gnomAD-2.1.1 1.97876E-04
16048 81 I/T 172 rs749678590 0.1178 None gnomAD-3.1.2 1.32E-05
16048 81 I/T 172 rs749678590 0.1178 None gnomAD-4.0.0 3.90696E-05
16048 81 I/V 172 None 0.1178 None gnomAD-4.0.0 1.59377E-06
16050 83 V/G 174 None 0.0947 None gnomAD-4.0.0 4.79278E-06
16051 84 N/I 175 None 0.3780 None gnomAD-4.0.0 2.05405E-06
16051 84 N/S 175 rs534426018 0.3780 None gnomAD-2.1.1 2.83E-05
16051 84 N/S 175 rs534426018 0.3780 None gnomAD-3.1.2 1.32E-05
16051 84 N/S 175 rs534426018 0.3780 None 1000 genomes 1.99681E-04
16051 84 N/S 175 rs534426018 0.3780 None gnomAD-4.0.0 1.48831E-05
16052 85 V/E 177 rs1191348634 0.1109 None gnomAD-2.1.1 8.07E-06
16052 85 V/E 177 rs1191348634 0.1109 None gnomAD-4.0.0 4.80129E-06
16052 85 V/I 177 rs768343058 0.1109 None gnomAD-2.1.1 4.04E-06
16052 85 V/I 177 rs768343058 0.1109 None gnomAD-4.0.0 2.40065E-06