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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7985 1 P/A 1 None 0.1266 None gnomAD-4.0.0 1.59403E-06
7985 1 P/L 1 rs746422101 0.1266 None gnomAD-2.1.1 4.03E-06
7985 1 P/L 1 rs746422101 0.1266 None gnomAD-4.0.0 2.05414E-06
7986 2 S/F 2 rs528627735 0.3596 None gnomAD-2.1.1 8.45E-05
7986 2 S/F 2 rs528627735 0.3596 None gnomAD-3.1.2 1.32E-05
7986 2 S/F 2 rs528627735 0.3596 None 1000 genomes 1.99681E-04
7986 2 S/F 2 rs528627735 0.3596 None gnomAD-4.0.0 3.84437E-05
7988 4 I/T 4 rs1481820577 0.2485 None gnomAD-2.1.1 3.19E-05
7988 4 I/T 4 rs1481820577 0.2485 None gnomAD-3.1.2 1.97E-05
7988 4 I/T 4 rs1481820577 0.2485 None gnomAD-4.0.0 2.05215E-05
7988 4 I/V 4 None 0.2485 None gnomAD-4.0.0 3.18667E-06
7989 5 R/C 5 rs201653851 0.2758 None gnomAD-2.1.1 1.35735E-04
7989 5 R/C 5 rs201653851 0.2758 None gnomAD-3.1.2 1.7759E-04
7989 5 R/C 5 rs201653851 0.2758 None 1000 genomes 3.99361E-04
7989 5 R/C 5 rs201653851 0.2758 None gnomAD-4.0.0 1.7174E-04
7989 5 R/H 5 rs898421060 0.2758 None gnomAD-2.1.1 8.05E-06
7989 5 R/H 5 rs898421060 0.2758 None gnomAD-3.1.2 6.58E-06
7989 5 R/H 5 rs898421060 0.2758 None gnomAD-4.0.0 8.06102E-06
7989 5 R/P 5 rs898421060 0.2758 None gnomAD-2.1.1 3.19E-05
7989 5 R/P 5 rs898421060 0.2758 None gnomAD-3.1.2 6.58E-06
7989 5 R/P 5 rs898421060 0.2758 None gnomAD-4.0.0 6.578E-06
7990 6 K/E 7 None 0.6142 None gnomAD-4.0.0 6.84526E-07
7990 6 K/Q 7 rs1164743322 0.6142 None gnomAD-2.1.1 4.02E-06
7990 6 K/Q 7 rs1164743322 0.6142 None gnomAD-4.0.0 2.05358E-06
7990 6 K/R 7 None 0.6142 None gnomAD-4.0.0 2.73809E-06
7991 7 L/P 8 rs780984243 0.1750 None gnomAD-2.1.1 4.02E-06
7992 8 K/I 9 None 0.6919 None gnomAD-4.0.0 1.5926E-06
7992 8 K/Q 9 rs1420514205 0.6919 None gnomAD-2.1.1 4.02E-06
7992 8 K/Q 9 rs1420514205 0.6919 None gnomAD-4.0.0 1.59264E-06
7993 9 D/E 11 rs751011918 0.5830 None gnomAD-2.1.1 4.02E-06
7993 9 D/E 11 rs751011918 0.5830 None gnomAD-4.0.0 1.36886E-06
7993 9 D/G 11 None 0.5830 None gnomAD-4.0.0 1.59251E-06
7994 10 V/E 13 None 0.3276 None gnomAD-4.0.0 1.59218E-06
7994 10 V/L 13 rs779653609 0.3276 None gnomAD-2.1.1 4.02E-06
7994 10 V/L 13 rs779653609 0.3276 None gnomAD-4.0.0 6.84442E-07
7994 10 V/M 13 rs779653609 0.3276 None gnomAD-2.1.1 1.21E-05
7994 10 V/M 13 rs779653609 0.3276 None gnomAD-3.1.2 6.58E-06
7994 10 V/M 13 rs779653609 0.3276 None gnomAD-4.0.0 4.33947E-06
7996 12 A/D 16 None 0.1728 None gnomAD-4.0.0 1.20032E-06
7996 12 A/P 16 None 0.1728 None gnomAD-4.0.0 6.84356E-07
7996 12 A/S 16 rs879233655 0.1728 None gnomAD-2.1.1 4.02E-06
7996 12 A/S 16 rs879233655 0.1728 None gnomAD-3.1.2 6.58E-06
7996 12 A/S 16 rs879233655 0.1728 None gnomAD-4.0.0 6.19855E-06
7997 13 I/N 18 rs776368998 0.8562 None gnomAD-4.0.0 1.91592E-05
7997 13 I/V 18 rs758227131 0.8562 None gnomAD-2.1.1 1.78E-05
7997 13 I/V 18 rs758227131 0.8562 None gnomAD-3.1.2 1.32E-05
7997 13 I/V 18 rs758227131 0.8562 None gnomAD-4.0.0 8.05708E-06
7998 14 L/Q 23 rs1188351264 0.6233 None gnomAD-2.1.1 4.02E-06
7998 14 L/Q 23 rs1188351264 0.6233 None gnomAD-4.0.0 1.3685E-06
7999 15 G/A 24 rs750389762 0.3102 None gnomAD-2.1.1 4.02E-06
7999 15 G/A 24 rs750389762 0.3102 None gnomAD-4.0.0 1.59148E-06
8000 16 A/P 25 None 0.2448 None gnomAD-4.0.0 6.84253E-07
8000 16 A/S 25 rs2077990712 0.2448 None gnomAD-4.0.0 6.84253E-07
8000 16 A/T 25 None 0.2448 None gnomAD-4.0.0 4.78977E-06
8002 18 V/A 28 None 0.2188 None gnomAD-4.0.0 2.05267E-06
8002 18 V/F 28 rs1332361126 0.2188 None gnomAD-2.1.1 4.02E-06
8002 18 V/F 28 rs1332361126 0.2188 None gnomAD-4.0.0 3.18264E-06
8004 20 L/W 30 rs1274821392 0.1574 None gnomAD-2.1.1 2.01E-05
8004 20 L/W 30 rs1274821392 0.1574 None gnomAD-3.1.2 1.31E-05
8004 20 L/W 30 rs1274821392 0.1574 None gnomAD-4.0.0 8.96797E-06
8005 21 E/Q 31 rs757042397 0.3793 None gnomAD-2.1.1 1.21E-05
8005 21 E/Q 31 rs757042397 0.3793 None gnomAD-3.1.2 6.58E-06
8005 21 E/Q 31 rs757042397 0.3793 None gnomAD-4.0.0 2.97473E-05
8006 22 C/Y 33 rs764282358 0.0748 None gnomAD-2.1.1 4.02E-06
8006 22 C/Y 33 rs764282358 0.0748 None gnomAD-4.0.0 8.89474E-06
8007 23 R/G 34 None 0.1908 None gnomAD-4.0.0 6.84211E-07
8007 23 R/P 34 rs765789516 0.1908 None gnomAD-3.1.2 6.58E-06
8007 23 R/P 34 rs765789516 0.1908 None gnomAD-4.0.0 6.57523E-06
8007 23 R/Q 34 rs765789516 0.1908 None gnomAD-2.1.1 9.65E-05
8007 23 R/Q 34 rs765789516 0.1908 None gnomAD-3.1.2 6.58E-06
8007 23 R/Q 34 rs765789516 0.1908 None gnomAD-4.0.0 4.95742E-05
8008 24 V/D 35 rs767654858 0.1106 None gnomAD-2.1.1 1.61E-05
8008 24 V/D 35 rs767654858 0.1106 None gnomAD-4.0.0 7.95631E-06
8008 24 V/I 35 rs775395125 0.1106 None gnomAD-2.1.1 1.61E-05
8008 24 V/I 35 rs775395125 0.1106 None gnomAD-4.0.0 7.95631E-06
8009 25 S/F 38 rs759900757 0.2400 None gnomAD-2.1.1 4.02E-06
8009 25 S/F 38 rs759900757 0.2400 None gnomAD-4.0.0 1.11389E-05
8010 26 G/D 40 None 0.2680 None gnomAD-4.0.0 1.20032E-06
8010 26 G/R 40 None 0.2680 None gnomAD-4.0.0 2.40064E-06
8011 27 S/L 41 rs771628562 0.1627 None gnomAD-4.0.0 1.59125E-06
8011 27 S/P 41 rs774921957 0.1627 None gnomAD-2.1.1 4.02E-06
8011 27 S/P 41 rs774921957 0.1627 None gnomAD-3.1.2 6.57E-06
8011 27 S/P 41 rs774921957 0.1627 None gnomAD-4.0.0 6.8168E-06
8012 28 A/P 42 rs749655622 0.5486 None gnomAD-2.1.1 4.02E-06
8012 28 A/P 42 rs749655622 0.5486 None gnomAD-4.0.0 1.59122E-06
8012 28 A/T 42 rs749655622 0.5486 None gnomAD-4.0.0 1.59122E-06
8013 29 P/L 43 rs773761640 0.8169 None gnomAD-2.1.1 8.04E-06
8013 29 P/L 43 rs773761640 0.8169 None gnomAD-3.1.2 6.58E-06
8013 29 P/L 43 rs773761640 0.8169 None gnomAD-4.0.0 5.57764E-06
8014 30 I/T 44 rs1415104830 0.1561 None gnomAD-3.1.2 1.32E-05
8014 30 I/T 44 rs1415104830 0.1561 None gnomAD-4.0.0 2.47888E-06
8016 32 V/A 46 rs746704436 0.3216 None gnomAD-2.1.1 2.5E-05
8016 32 V/A 46 rs746704436 0.3216 None gnomAD-3.1.2 6.58E-06
8016 32 V/A 46 rs746704436 0.3216 None gnomAD-4.0.0 6.19722E-06
8016 32 V/L 46 None 0.3216 None gnomAD-4.0.0 1.20032E-06
8019 35 F/L 49 rs1404511467 0.2226 None gnomAD-4.0.0 1.20032E-06
8020 36 Q/R 50 None 0.2223 None gnomAD-4.0.0 1.59125E-06
8023 39 N/K 55 rs757931022 0.6264 None gnomAD-2.1.1 4.02E-06
8023 39 N/K 55 rs757931022 0.6264 None gnomAD-4.0.0 2.73875E-06
8023 39 N/S 55 rs779375050 0.6264 None gnomAD-2.1.1 8.04E-06
8023 39 N/S 55 rs779375050 0.6264 None gnomAD-4.0.0 1.59124E-06
8024 40 E/Q 56 None 0.5886 None gnomAD-4.0.0 8.40225E-06
8025 41 I/F 58 rs1317114074 0.2008 None gnomAD-2.1.1 8.04E-06
8025 41 I/F 58 rs1317114074 0.2008 None gnomAD-4.0.0 3.18242E-06
8025 41 I/M 58 rs371496970 0.2008 None gnomAD-2.1.1 1.15724E-03
8025 41 I/M 58 rs371496970 0.2008 None gnomAD-3.1.2 3.61852E-04
8025 41 I/M 58 rs371496970 0.2008 None 1000 genomes 2.79553E-03
8025 41 I/M 58 rs371496970 0.2008 None gnomAD-4.0.0 5.98634E-04
8025 41 I/N 58 None 0.2008 None gnomAD-4.0.0 1.59126E-06
8026 42 V/D 59 None 0.8608 None gnomAD-4.0.0 1.3684E-06
8026 42 V/G 59 None 0.8608 None gnomAD-4.0.0 6.84201E-07
8027 43 S/G 70 None 0.4812 None gnomAD-4.0.0 1.20032E-06
8027 43 S/R 70 rs1229192464 0.4812 None gnomAD-2.1.1 8.04E-06
8027 43 S/R 70 rs1229192464 0.4812 None gnomAD-4.0.0 3.18242E-06
8027 43 S/T 70 None 0.4812 None gnomAD-4.0.0 1.20032E-06
8028 44 G/A 73 rs560897705 0.3091 None gnomAD-2.1.1 3.19E-05
8028 44 G/A 73 rs560897705 0.3091 None gnomAD-3.1.2 1.97E-05
8028 44 G/A 73 rs560897705 0.3091 None gnomAD-4.0.0 6.19751E-06
8029 45 P/L 102 rs2077977031 0.9037 None gnomAD-4.0.0 4.77365E-06
8031 47 C/Y 121 rs2077976693 0.2329 None gnomAD-4.0.0 1.3684E-06
8032 48 Q/R 122 rs529079424 0.4893 None gnomAD-2.1.1 8.04E-06
8032 48 Q/R 122 rs529079424 0.4893 None gnomAD-3.1.2 6.57E-06
8032 48 Q/R 122 rs529079424 0.4893 None 1000 genomes 1.99681E-04
8032 48 Q/R 122 rs529079424 0.4893 None gnomAD-4.0.0 3.84283E-06
8033 49 S/Y 123 None 0.3763 None gnomAD-4.0.0 1.59121E-06
8034 50 S/T 125 None 0.4650 None gnomAD-4.0.0 2.40064E-06
8035 51 F/C 127 rs770221553 0.3432 None gnomAD-2.1.1 4.02E-06
8035 51 F/C 127 rs770221553 0.3432 None gnomAD-4.0.0 2.73681E-06
8035 51 F/S 127 rs770221553 0.3432 None gnomAD-2.1.1 4.02E-06
8035 51 F/S 127 rs770221553 0.3432 None gnomAD-4.0.0 6.84201E-07
8036 52 S/L 130 rs200598509 0.4983 None gnomAD-2.1.1 7.24E-05
8036 52 S/L 130 rs200598509 0.4983 None gnomAD-3.1.2 4.6E-05
8036 52 S/L 130 rs200598509 0.4983 None gnomAD-4.0.0 5.82499E-05
8039 55 V/I 135 rs759655046 0.1653 None gnomAD-2.1.1 1.79E-05
8039 55 V/I 135 rs759655046 0.1653 None gnomAD-3.1.2 3.29E-05
8039 55 V/I 135 rs759655046 0.1653 None gnomAD-4.0.0 2.41675E-05
8040 56 C/R 136 None 0.0796 None gnomAD-4.0.0 6.84202E-07
8040 56 C/S 136 rs1398583484 0.0796 None gnomAD-2.1.1 4.02E-06
8040 56 C/S 136 rs1398583484 0.0796 None gnomAD-4.0.0 6.84202E-07
8040 56 C/Y 136 None 0.0796 None gnomAD-4.0.0 1.20032E-06
8041 57 T/A 137 None 0.2274 None gnomAD-4.0.0 6.84205E-07
8041 57 T/S 137 None 0.2274 None gnomAD-4.0.0 6.84205E-07
8042 58 L/S 138 rs774349184 0.0722 None gnomAD-2.1.1 4.02E-06
8042 58 L/S 138 rs774349184 0.0722 None gnomAD-4.0.0 1.59125E-06
8043 59 N/S 139 rs1462695230 0.4237 None gnomAD-2.1.1 4.02E-06
8043 59 N/S 139 rs1462695230 0.4237 None gnomAD-4.0.0 1.59126E-06
8045 61 S/G 141 None 0.2887 None gnomAD-4.0.0 2.05262E-06
8046 62 L/F 143 rs375154651 0.8554 None gnomAD-2.1.1 4.02E-06
8046 62 L/F 143 rs375154651 0.8554 None gnomAD-3.1.2 6.57E-06
8046 62 L/F 143 rs375154651 0.8554 None gnomAD-4.0.0 3.71831E-06
8046 62 L/S 143 rs1553904761 0.8554 None gnomAD-4.0.0 1.36842E-06
8048 64 E/G 145 None 0.4859 None gnomAD-4.0.0 1.59128E-06
8049 65 P/L 146 None 0.5886 None gnomAD-4.0.0 1.59127E-06
8049 65 P/S 146 None 0.5886 None gnomAD-4.0.0 1.59126E-06
8050 66 S/P 148 rs2077970288 0.5127 None gnomAD-4.0.0 3.42104E-06
8051 67 D/E 149 rs368438797 0.1939 None gnomAD-2.1.1 4.02E-06
8051 67 D/E 149 rs368438797 0.1939 None gnomAD-3.1.2 1.31E-05
8051 67 D/E 149 rs368438797 0.1939 None gnomAD-4.0.0 4.95772E-06
8051 67 D/N 149 rs368226720 0.1939 None gnomAD-2.1.1 1.07E-05
8051 67 D/N 149 rs368226720 0.1939 None gnomAD-3.1.2 3.29E-05
8051 67 D/N 149 rs368226720 0.1939 None 1000 genomes 1.99681E-04
8051 67 D/N 149 rs368226720 0.1939 None gnomAD-4.0.0 9.2954E-06
8053 69 G/S 152 rs374167223 0.1602 None gnomAD-2.1.1 2.82E-05
8053 69 G/S 152 rs374167223 0.1602 None gnomAD-3.1.2 4.6E-05
8053 69 G/S 152 rs374167223 0.1602 None gnomAD-4.0.0 2.91261E-05
8054 70 I/K 153 rs745362139 0.5461 None gnomAD-2.1.1 8.05E-06
8054 70 I/K 153 rs745362139 0.5461 None gnomAD-4.0.0 2.22778E-05
8054 70 I/L 153 rs72648976 0.5461 None gnomAD-2.1.1 2.15513E-03
8054 70 I/L 153 rs72648976 0.5461 None gnomAD-3.1.2 6.42981E-03
8054 70 I/L 153 rs72648976 0.5461 None 1000 genomes 5.99042E-03
8054 70 I/L 153 rs72648976 0.5461 None gnomAD-4.0.0 1.14453E-03
8054 70 I/V 153 None 0.5461 None gnomAD-4.0.0 6.84212E-07
8055 71 Y/H 154 rs1160062455 0.1279 None gnomAD-2.1.1 6.37E-05
8055 71 Y/H 154 rs1160062455 0.1279 None gnomAD-3.1.2 1.97E-05
8055 71 Y/H 154 rs1160062455 0.1279 None gnomAD-4.0.0 6.40561E-06
8056 72 T/M 155 rs757148743 0.1846 None gnomAD-2.1.1 8.06E-06
8056 72 T/M 155 rs757148743 0.1846 None gnomAD-3.1.2 6.57E-06
8056 72 T/M 155 rs757148743 0.1846 None gnomAD-4.0.0 6.19669E-06
8056 72 T/S 155 None 0.1846 None gnomAD-4.0.0 1.59131E-06
8058 74 V/A 157 rs1392397772 0.2193 None gnomAD-2.1.1 4.03E-06
8058 74 V/A 157 rs1392397772 0.2193 None gnomAD-4.0.0 1.59134E-06
8058 74 V/M 157 rs1309625913 0.2193 None gnomAD-2.1.1 4.03E-06
8058 74 V/M 157 rs1309625913 0.2193 None gnomAD-4.0.0 1.59134E-06
8059 75 A/T 158 None 0.0972 None gnomAD-4.0.0 1.59154E-06
8059 75 A/V 158 rs1301357470 0.0972 None gnomAD-2.1.1 4.03E-06
8059 75 A/V 158 rs1301357470 0.0972 None gnomAD-4.0.0 1.59136E-06
8061 77 N/D 161 None 0.1414 None gnomAD-4.0.0 1.59138E-06
8061 77 N/K 161 rs1376169033 0.1414 None gnomAD-3.1.2 6.57E-06
8061 77 N/K 161 rs1376169033 0.1414 None gnomAD-4.0.0 6.57341E-06
8061 77 N/S 161 rs752499533 0.1414 None gnomAD-2.1.1 1.61E-05
8061 77 N/S 161 rs752499533 0.1414 None gnomAD-3.1.2 6.57E-06
8061 77 N/S 161 rs752499533 0.1414 None gnomAD-4.0.0 4.33808E-06
8062 78 V/I 162 rs879134005 0.8757 None gnomAD-2.1.1 4.04E-06
8062 78 V/I 162 rs879134005 0.8757 None gnomAD-4.0.0 1.59143E-06
8064 80 G/D 164 None 0.2442 None gnomAD-4.0.0 1.59145E-06
8065 81 S/P 165 rs2077961175 0.4905 None gnomAD-4.0.0 1.59144E-06
8066 82 D/N 166 rs755202091 0.2726 None gnomAD-2.1.1 1.21E-05
8066 82 D/N 166 rs755202091 0.2726 None gnomAD-3.1.2 3.29E-05
8066 82 D/N 166 rs755202091 0.2726 None gnomAD-4.0.0 1.73544E-05
8067 83 E/D 168 rs1319416113 0.5934 None gnomAD-3.1.2 6.57E-06
8067 83 E/D 168 rs1319416113 0.5934 None gnomAD-4.0.0 6.57315E-06
8068 84 C/Y 169 None 0.0926 None gnomAD-4.0.0 1.59219E-06
8069 85 S/L 171 rs751657368 0.3529 None gnomAD-2.1.1 8.09E-06
8069 85 S/L 171 rs751657368 0.3529 None gnomAD-3.1.2 6.57E-06
8069 85 S/L 171 rs751657368 0.3529 None gnomAD-4.0.0 3.84483E-06
8070 86 A/E 172 rs796067887 0.1259 None gnomAD-2.1.1 3.18E-05
8070 86 A/E 172 rs796067887 0.1259 None gnomAD-3.1.2 6.57E-06
8070 86 A/E 172 rs796067887 0.1259 None gnomAD-4.0.0 6.5716E-06
8073 89 T/N 175 None 0.3029 None gnomAD-4.0.0 1.32035E-05
8074 90 V/E 177 None 0.1685 None gnomAD-4.0.0 1.59873E-06
8074 90 V/L 177 None 0.1685 None gnomAD-4.0.0 1.3712E-06
8074 90 V/M 177 rs763504178 0.1685 None gnomAD-2.1.1 1.63E-05
8074 90 V/M 177 rs763504178 0.1685 None gnomAD-4.0.0 2.7424E-06