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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6574 1 P/Q 1 None 0.1252 None gnomAD-4.0.0 1.67444E-06
6575 2 S/N 2 rs560328343 0.2918 None gnomAD-3.1.2 6.58E-06
6575 2 S/N 2 rs560328343 0.2918 None 1000 genomes 1.99681E-04
6575 2 S/N 2 rs560328343 0.2918 None gnomAD-4.0.0 1.26495E-06
6575 2 S/T 2 None 0.2918 None gnomAD-4.0.0 1.39967E-06
6578 5 V/L 5 rs2079625925 0.3711 None gnomAD-3.1.2 6.58E-06
6578 5 V/L 5 rs2079625925 0.3711 None gnomAD-4.0.0 6.57618E-06
6578 5 V/M 5 None 0.3711 None gnomAD-4.0.0 1.6504E-06
6579 6 K/N 7 rs1578112424 0.5252 None gnomAD-4.0.0 3.27721E-06
6580 7 P/S 8 rs116572520 0.2148 None gnomAD-2.1.1 6.00326E-04
6580 7 P/S 8 rs116572520 0.2148 None gnomAD-3.1.2 1.81524E-03
6580 7 P/S 8 rs116572520 0.2148 None 1000 genomes 3.39457E-03
6580 7 P/S 8 rs116572520 0.2148 None gnomAD-4.0.0 3.29817E-04
6580 7 P/T 8 rs116572520 0.2148 None gnomAD-2.1.1 8.51E-06
6580 7 P/T 8 rs116572520 0.2148 None gnomAD-4.0.0 1.38633E-06
6582 9 R/Q 11 rs776051087 0.8631 None gnomAD-2.1.1 2.96E-05
6582 9 R/Q 11 rs776051087 0.8631 None gnomAD-3.1.2 5.92E-05
6582 9 R/Q 11 rs776051087 0.8631 None gnomAD-4.0.0 2.81502E-05
6583 10 Q/R 13 rs1370326075 0.2888 None gnomAD-4.0.0 1.61836E-06
6584 11 Q/K 14 rs908969278 0.7321 None gnomAD-4.0.0 1.20032E-06
6585 12 A/T 16 None 0.1721 None gnomAD-4.0.0 1.20032E-06
6586 13 I/T 18 rs896710187 0.8050 None gnomAD-3.1.2 6.57E-06
6586 13 I/T 18 rs896710187 0.8050 None gnomAD-4.0.0 6.21717E-06
6586 13 I/V 18 None 0.8050 None gnomAD-4.0.0 1.20032E-06
6587 14 P/R 23 rs2079621657 0.4623 None gnomAD-4.0.0 1.60498E-06
6587 14 P/T 23 None 0.4623 None gnomAD-4.0.0 6.86684E-07
6588 15 D/H 24 None 0.7736 None gnomAD-4.0.0 6.85357E-06
6588 15 D/N 24 None 0.7736 None gnomAD-4.0.0 6.85357E-07
6589 16 S/C 25 rs1206769574 0.2280 None gnomAD-2.1.1 4.04E-06
6589 16 S/C 25 rs1206769574 0.2280 None gnomAD-4.0.0 6.84978E-07
6589 16 S/Y 25 None 0.2280 None gnomAD-4.0.0 6.84978E-07
6590 17 T/A 26 rs1296238597 0.5928 None gnomAD-2.1.1 4.04E-06
6590 17 T/A 26 rs1296238597 0.5928 None gnomAD-4.0.0 1.59523E-06
6590 17 T/I 26 rs760473000 0.5928 None gnomAD-2.1.1 1.62E-05
6590 17 T/I 26 rs760473000 0.5928 None gnomAD-4.0.0 4.79518E-06
6591 18 V/G 28 rs2079619288 0.1798 None gnomAD-3.1.2 6.57E-06
6591 18 V/G 28 rs2079619288 0.1798 None gnomAD-4.0.0 2.56654E-06
6595 22 A/T 33 rs1305423472 0.1014 None gnomAD-2.1.1 7.16E-06
6595 22 A/T 33 rs1305423472 0.1014 None gnomAD-3.1.2 6.58E-06
6595 22 A/T 33 rs1305423472 0.1014 None gnomAD-4.0.0 2.48042E-06
6596 23 I/M 34 rs2079617659 0.2892 None gnomAD-4.0.0 1.59302E-06
6596 23 I/T 34 None 0.2892 None gnomAD-4.0.0 1.20032E-06
6596 23 I/V 34 rs369108292 0.2892 None gnomAD-2.1.1 8.06E-06
6596 23 I/V 34 rs369108292 0.2892 None gnomAD-3.1.2 2.63E-05
6596 23 I/V 34 rs369108292 0.2892 None gnomAD-4.0.0 4.34001E-06
6597 24 L/I 35 None 0.1446 None gnomAD-4.0.0 6.00161E-06
6597 24 L/P 35 rs745676008 0.1446 None gnomAD-2.1.1 4.03E-06
6597 24 L/P 35 rs745676008 0.1446 None gnomAD-4.0.0 2.6012E-05
6599 26 G/E 40 None 0.1671 None gnomAD-4.0.0 2.40064E-06
6600 27 T/A 41 rs530353051 0.3051 None gnomAD-2.1.1 2.82E-05
6600 27 T/A 41 rs530353051 0.3051 None gnomAD-3.1.2 1.97E-05
6600 27 T/A 41 rs530353051 0.3051 None 1000 genomes 1.99681E-04
6600 27 T/A 41 rs530353051 0.3051 None gnomAD-4.0.0 1.6664E-05
6600 27 T/I 41 rs1355564295 0.3051 None gnomAD-2.1.1 4.02E-06
6600 27 T/I 41 rs1355564295 0.3051 None gnomAD-4.0.0 2.40065E-06
6601 28 P/L 42 None 0.4981 None gnomAD-4.0.0 6.84477E-07
6601 28 P/Q 42 rs1578111426 0.4981 None gnomAD-4.0.0 6.84477E-07
6601 28 P/S 42 rs1175980116 0.4981 None gnomAD-2.1.1 4.02E-06
6601 28 P/S 42 rs1175980116 0.4981 None gnomAD-3.1.2 1.32E-05
6601 28 P/S 42 rs1175980116 0.4981 None gnomAD-4.0.0 6.81922E-06
6602 29 P/Q 43 rs749229040 0.7775 None gnomAD-2.1.1 4.02E-06
6602 29 P/Q 43 rs749229040 0.7775 None gnomAD-4.0.0 6.3705E-06
6602 29 P/R 43 rs749229040 0.7775 None gnomAD-3.1.2 1.32E-05
6602 29 P/R 43 rs749229040 0.7775 None gnomAD-4.0.0 1.31506E-05
6602 29 P/S 43 None 0.7775 None gnomAD-4.0.0 1.5926E-06
6605 32 I/M 46 None 0.2581 None gnomAD-4.0.0 1.20034E-06
6607 34 W/R 48 None 0.1250 None gnomAD-4.0.0 1.20032E-06
6608 35 F/C 49 None 0.1513 None gnomAD-4.0.0 3.18464E-06
6608 35 F/L 49 None 0.1513 None gnomAD-4.0.0 6.84402E-07
6609 36 K/N 50 rs781410754 0.1371 None gnomAD-2.1.1 6.84E-05
6609 36 K/N 50 rs781410754 0.1371 None gnomAD-3.1.2 2.63E-05
6609 36 K/N 50 rs781410754 0.1371 None gnomAD-4.0.0 1.3688E-06
6609 36 K/R 50 rs756188488 0.1371 None gnomAD-2.1.1 1.61E-05
6609 36 K/R 50 rs756188488 0.1371 None gnomAD-3.1.2 1.31E-05
6609 36 K/R 50 rs756188488 0.1371 None gnomAD-4.0.0 7.69059E-06
6610 37 D/E 51 None 0.4240 None gnomAD-4.0.0 1.59229E-06
6610 37 D/G 51 None 0.4240 None gnomAD-4.0.0 6.84404E-07
6610 37 D/H 51 None 0.4240 None gnomAD-4.0.0 3.18461E-06
6610 37 D/V 51 rs755182614 0.4240 None gnomAD-2.1.1 4.02E-06
6610 37 D/V 51 rs755182614 0.4240 None gnomAD-4.0.0 6.84404E-07
6611 38 D/G 52 None 0.9748 None gnomAD-4.0.0 1.20032E-06
6611 38 D/N 52 None 0.9748 None gnomAD-4.0.0 1.20032E-06
6612 39 V/A 55 None 0.5490 None gnomAD-4.0.0 6.84395E-07
6612 39 V/E 55 rs751909040 0.5490 None gnomAD-2.1.1 4.02E-06
6612 39 V/E 55 rs751909040 0.5490 None gnomAD-4.0.0 1.36879E-06
6612 39 V/M 55 None 0.5490 None gnomAD-4.0.0 1.59229E-06
6614 41 L/I 58 rs758885175 0.2220 None gnomAD-2.1.1 4.02E-06
6614 41 L/I 58 rs758885175 0.2220 None gnomAD-4.0.0 1.59225E-06
6615 42 V/L 59 None 0.7916 None gnomAD-4.0.0 8.21269E-06
6617 44 G/D 73 rs371847228 0.3828 None gnomAD-2.1.1 6.78E-05
6617 44 G/D 73 rs371847228 0.3828 None gnomAD-3.1.2 2.17025E-04
6617 44 G/D 73 rs371847228 0.3828 None gnomAD-4.0.0 3.53334E-05
6618 45 P/A 102 None 0.9212 None gnomAD-4.0.0 1.36878E-06
6618 45 P/L 102 None 0.9212 None gnomAD-4.0.0 3.18465E-06
6618 45 P/S 102 rs1234787097 0.9212 None gnomAD-2.1.1 4.02E-06
6618 45 P/S 102 rs1234787097 0.9212 None gnomAD-4.0.0 6.84391E-07
6619 46 K/E 115 rs1060500450 0.7787 None gnomAD-2.1.1 4.02E-06
6619 46 K/E 115 rs1060500450 0.7787 None gnomAD-3.1.2 1.97E-05
6619 46 K/E 115 rs1060500450 0.7787 None gnomAD-4.0.0 1.1536E-05
6619 46 K/T 115 rs368720026 0.7787 None gnomAD-2.1.1 8.04E-06
6619 46 K/T 115 rs368720026 0.7787 None gnomAD-3.1.2 5.92E-05
6619 46 K/T 115 rs368720026 0.7787 None gnomAD-4.0.0 1.79463E-05
6620 47 C/F 121 None 0.1675 None gnomAD-4.0.0 6.84404E-07
6620 47 C/R 121 rs1470771648 0.1675 None gnomAD-3.1.2 6.57E-06
6620 47 C/R 121 rs1470771648 0.1675 None gnomAD-4.0.0 6.5735E-06
6620 47 C/Y 121 rs935626596 0.1675 None gnomAD-2.1.1 1.61E-05
6620 47 C/Y 121 rs935626596 0.1675 None gnomAD-4.0.0 6.15963E-06
6621 48 F/L 122 rs760276555 0.4601 None gnomAD-2.1.1 8.04E-06
6621 48 F/L 122 rs760276555 0.4601 None gnomAD-4.0.0 4.77693E-06
6622 49 I/F 123 rs775092361 0.1881 None gnomAD-2.1.1 4.02E-06
6622 49 I/N 123 rs1413452032 0.1881 None gnomAD-2.1.1 4.02E-06
6622 49 I/N 123 rs1413452032 0.1881 None gnomAD-4.0.0 1.59231E-06
6624 51 L/F 127 rs78279193 0.3521 None gnomAD-4.0.0 3.18506E-06
6626 53 G/E 131 rs1362220931 0.5119 None gnomAD-2.1.1 4.02E-06
6626 53 G/R 131 rs770749098 0.5119 None gnomAD-2.1.1 4.02E-06
6626 53 G/R 131 rs770749098 0.5119 None gnomAD-4.0.0 1.59237E-06
6626 53 G/V 131 rs1362220931 0.5119 None gnomAD-4.0.0 1.20032E-06
6627 54 S/L 134 rs773143754 0.3565 None gnomAD-2.1.1 1.43E-05
6627 54 S/L 134 rs773143754 0.3565 None gnomAD-3.1.2 6.58E-06
6627 54 S/L 134 rs773143754 0.3565 None gnomAD-4.0.0 9.919E-06
6628 55 T/P 135 None 0.1507 None gnomAD-4.0.0 6.00161E-06
6629 56 S/G 136 rs1484625101 0.1115 None gnomAD-2.1.1 4.02E-06
6629 56 S/G 136 rs1484625101 0.1115 None gnomAD-4.0.0 1.59241E-06
6629 56 S/I 136 rs2079601523 0.1115 None gnomAD-3.1.2 6.58E-06
6629 56 S/I 136 rs2079601523 0.1115 None gnomAD-4.0.0 6.57748E-06
6630 57 F/L 137 rs1259557024 0.2171 None gnomAD-2.1.1 4.02E-06
6630 57 F/L 137 rs1259557024 0.2171 None gnomAD-3.1.2 1.31E-05
6630 57 F/L 137 rs1259557024 0.2171 None gnomAD-4.0.0 5.12771E-06
6630 57 F/V 137 rs1259557024 0.2171 None gnomAD-3.1.2 6.57E-06
6630 57 F/V 137 rs1259557024 0.2171 None gnomAD-4.0.0 2.56385E-06
6631 58 L/S 138 None 0.0732 None gnomAD-4.0.0 1.36887E-06
6634 61 Y/C 141 rs2079599735 0.4286 None gnomAD-3.1.2 6.58E-06
6634 61 Y/C 141 rs2079599735 0.4286 None gnomAD-4.0.0 7.10648E-06
6634 61 Y/H 141 rs1211263186 0.4286 None gnomAD-2.1.1 8.04E-06
6634 61 Y/H 141 rs1211263186 0.4286 None gnomAD-4.0.0 4.77779E-06
6636 63 V/A 144 rs1258812731 0.1198 None gnomAD-2.1.1 1.61E-05
6636 63 V/A 144 rs1258812731 0.1198 None gnomAD-4.0.0 4.77824E-06
6637 64 D/G 145 rs1240731918 0.3515 None gnomAD-2.1.1 4.03E-06
6637 64 D/G 145 rs1240731918 0.3515 None gnomAD-3.1.2 1.32E-05
6637 64 D/G 145 rs1240731918 0.3515 None gnomAD-4.0.0 1.31546E-05
6637 64 D/V 145 None 0.3515 None gnomAD-4.0.0 1.20032E-06
6637 64 D/Y 145 None 0.3515 None gnomAD-4.0.0 1.20032E-06
6638 65 A/T 146 rs878890344 0.5177 None gnomAD-3.1.2 6.58E-06
6638 65 A/T 146 rs878890344 0.5177 None gnomAD-4.0.0 3.72E-06
6640 67 K/E 149 None 0.2697 None gnomAD-4.0.0 1.20032E-06
6641 68 T/A 151 None 0.3066 None gnomAD-4.0.0 1.5932E-06
6641 68 T/I 151 rs747240394 0.3066 None gnomAD-3.1.2 6.58E-06
6641 68 T/I 151 rs747240394 0.3066 None gnomAD-4.0.0 6.57601E-06
6641 68 T/N 151 rs747240394 0.3066 None gnomAD-2.1.1 2.93278E-04
6641 68 T/N 151 rs747240394 0.3066 None gnomAD-3.1.2 7.23E-05
6641 68 T/N 151 rs747240394 0.3066 None gnomAD-4.0.0 1.23129E-04
6641 68 T/P 151 rs768808788 0.3066 None gnomAD-2.1.1 4.03E-06
6641 68 T/P 151 rs768808788 0.3066 None gnomAD-4.0.0 1.5932E-06
6643 70 Q/E 153 None 0.6374 None gnomAD-4.0.0 1.59555E-06
6643 70 Q/H 153 None 0.6374 None gnomAD-4.0.0 1.20032E-06
6643 70 Q/R 153 rs1399714010 0.6374 None gnomAD-2.1.1 4.06E-06
6643 70 Q/R 153 rs1399714010 0.6374 None gnomAD-4.0.0 4.1136E-06
6644 71 Y/C 154 rs375417679 0.1081 None gnomAD-2.1.1 4.06E-06
6644 71 Y/C 154 rs375417679 0.1081 None gnomAD-3.1.2 6.58E-06
6644 71 Y/C 154 rs375417679 0.1081 None gnomAD-4.0.0 1.86266E-06
6645 72 T/A 155 rs370671112 0.1592 None gnomAD-2.1.1 2.54E-05
6645 72 T/A 155 rs370671112 0.1592 None gnomAD-3.1.2 2.63E-05
6645 72 T/A 155 rs370671112 0.1592 None gnomAD-4.0.0 2.36301E-05
6646 73 C/Y 156 rs575692993 0.0772 None gnomAD-2.1.1 1.23E-05
6646 73 C/Y 156 rs575692993 0.0772 None gnomAD-3.1.2 6.58E-06
6646 73 C/Y 156 rs575692993 0.0772 None 1000 genomes 1.99681E-04
6646 73 C/Y 156 rs575692993 0.0772 None gnomAD-4.0.0 3.7348E-06
6647 74 H/Q 157 rs565190478 0.3283 None gnomAD-3.1.2 6.57E-06
6647 74 H/Q 157 rs565190478 0.3283 None 1000 genomes 1.99681E-04
6647 74 H/Q 157 rs565190478 0.3283 None gnomAD-4.0.0 6.00161E-06
6647 74 H/R 157 rs757799209 0.3283 None gnomAD-2.1.1 4.19E-06
6647 74 H/R 157 rs757799209 0.3283 None gnomAD-4.0.0 2.75954E-06
6648 75 V/A 158 None 0.0973 None gnomAD-4.0.0 6.90254E-07
6648 75 V/G 158 rs752299031 0.0973 None gnomAD-2.1.1 8.41E-06
6648 75 V/G 158 rs752299031 0.0973 None gnomAD-4.0.0 1.38051E-06
6649 76 T/I 159 rs767035458 0.3290 None gnomAD-2.1.1 4.2E-06
6649 76 T/I 159 rs767035458 0.3290 None gnomAD-4.0.0 1.62667E-06
6650 77 N/S 161 rs751222632 0.1523 None gnomAD-2.1.1 1.11E-05
6650 77 N/S 161 rs751222632 0.1523 None gnomAD-3.1.2 1.32E-05
6650 77 N/S 161 rs751222632 0.1523 None gnomAD-4.0.0 6.52387E-06
6650 77 N/T 161 rs751222632 0.1523 None gnomAD-2.1.1 4.21E-06
6650 77 N/T 161 rs751222632 0.1523 None gnomAD-4.0.0 1.62767E-06
6653 80 G/A 164 rs1446415238 0.2280 None gnomAD-2.1.1 8.44E-06
6653 80 G/A 164 rs1446415238 0.2280 None gnomAD-3.1.2 6.58E-06
6653 80 G/A 164 rs1446415238 0.2280 None gnomAD-4.0.0 6.26272E-06
6653 80 G/D 164 rs1446415238 0.2280 None gnomAD-4.0.0 1.38437E-06
6653 80 G/R 164 None 0.2280 None gnomAD-4.0.0 1.63463E-06
6655 82 D/G 166 rs772947420 0.2880 None gnomAD-2.1.1 2.27E-05
6655 82 D/G 166 rs772947420 0.2880 None gnomAD-3.1.2 3.3E-05
6655 82 D/G 166 rs772947420 0.2880 None gnomAD-4.0.0 1.32081E-05
6655 82 D/N 166 rs397517493 0.2880 None gnomAD-2.1.1 3.77E-05
6655 82 D/N 166 rs397517493 0.2880 None gnomAD-3.1.2 2.63E-05
6655 82 D/N 166 rs397517493 0.2880 None gnomAD-4.0.0 6.03057E-05
6656 83 S/C 168 rs761716450 0.3050 None gnomAD-2.1.1 8.59E-06
6656 83 S/C 168 rs761716450 0.3050 None gnomAD-4.0.0 1.38996E-06
6656 83 S/F 168 rs761716450 0.3050 None gnomAD-2.1.1 8.59E-06
6656 83 S/F 168 rs761716450 0.3050 None gnomAD-4.0.0 3.47491E-06
6657 84 C/F 169 rs776748717 0.1455 None gnomAD-2.1.1 7.6E-06
6657 84 C/F 169 rs776748717 0.1455 None gnomAD-3.1.2 6.58E-06
6657 84 C/F 169 rs776748717 0.1455 None gnomAD-4.0.0 2.51707E-06
6657 84 C/Y 169 None 0.1455 None gnomAD-4.0.0 1.3917E-06
6659 86 T/A 172 rs768775530 0.1202 None gnomAD-2.1.1 4.41E-06
6659 86 T/A 172 rs768775530 0.1202 None gnomAD-4.0.0 3.35386E-06
6659 86 T/M 172 rs16866475 0.1202 None gnomAD-2.1.1 4.17069E-03
6659 86 T/M 172 rs16866475 0.1202 None gnomAD-3.1.2 1.19008E-02
6659 86 T/M 172 rs16866475 0.1202 None 1000 genomes 1.65735E-02
6659 86 T/M 172 rs16866475 0.1202 None gnomAD-4.0.0 2.25599E-03
6660 87 M/I 173 None 0.4909 None gnomAD-4.0.0 1.40711E-06
6660 87 M/L 173 rs780339252 0.4909 None gnomAD-2.1.1 4.46E-06
6660 87 M/L 173 rs780339252 0.4909 None gnomAD-4.0.0 5.06049E-06
6660 87 M/V 173 rs780339252 0.4909 None gnomAD-2.1.1 4.46E-06
6660 87 M/V 173 rs780339252 0.4909 None gnomAD-4.0.0 1.68683E-06
6661 88 L/S 174 rs772138264 0.1099 None gnomAD-2.1.1 9.12E-06
6661 88 L/S 174 rs772138264 0.1099 None gnomAD-4.0.0 8.51844E-06
6662 89 L/F 175 rs2079581150 0.4816 None gnomAD-4.0.0 1.72006E-06