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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6385 1 A/T 1 rs1032273558 0.1435 None gnomAD-2.1.1 4.09E-06
6385 1 A/T 1 rs1032273558 0.1435 None gnomAD-4.0.0 3.45984E-06
6385 1 A/V 1 rs1560764364 0.1435 None gnomAD-4.0.0 1.20032E-06
6386 2 Q/E 2 rs1578126437 0.7491 None gnomAD-3.1.2 6.57E-06
6386 2 Q/E 2 rs1578126437 0.7491 None gnomAD-4.0.0 6.57376E-06
6386 2 Q/H 2 rs727504206 0.7491 None gnomAD-3.1.2 6.57E-06
6386 2 Q/H 2 rs727504206 0.7491 None gnomAD-4.0.0 6.57212E-06
6386 2 Q/P 2 rs1487828646 0.7491 None gnomAD-2.1.1 4.07E-06
6386 2 Q/P 2 rs1487828646 0.7491 None gnomAD-4.0.0 2.76379E-06
6387 3 I/F 3 None 0.1484 None gnomAD-4.0.0 1.20032E-06
6388 4 V/I 4 rs550617268 0.5087 None gnomAD-2.1.1 4.69E-05
6388 4 V/I 4 rs550617268 0.5087 None gnomAD-3.1.2 2.63E-05
6388 4 V/I 4 rs550617268 0.5087 None 1000 genomes 1.99681E-04
6388 4 V/I 4 rs550617268 0.5087 None gnomAD-4.0.0 4.18776E-05
6388 4 V/L 4 None 0.5087 None gnomAD-4.0.0 6.90765E-07
6389 5 E/Q 5 rs1256437537 0.5543 None gnomAD-2.1.1 4.05E-06
6389 5 E/Q 5 rs1256437537 0.5543 None gnomAD-3.1.2 6.57E-06
6389 5 E/Q 5 rs1256437537 0.5543 None gnomAD-4.0.0 2.49858E-06
6390 6 K/E 7 rs1220495372 0.6453 None gnomAD-2.1.1 4.05E-06
6390 6 K/E 7 rs1220495372 0.6453 None gnomAD-4.0.0 1.62319E-06
6391 7 A/S 8 None 0.2030 None gnomAD-4.0.0 3.24138E-06
6392 8 K/I 9 rs2079823191 0.9160 None gnomAD-3.1.2 6.57E-06
6392 8 K/I 9 rs2079823191 0.9160 None gnomAD-4.0.0 6.57168E-06
6392 8 K/Q 9 rs1458174674 0.9160 None gnomAD-3.1.2 6.57E-06
6392 8 K/Q 9 rs1458174674 0.9160 None gnomAD-4.0.0 6.57168E-06
6394 10 V/D 13 rs969002490 0.4009 None gnomAD-4.0.0 1.37542E-06
6394 10 V/L 13 rs370515485 0.4009 None gnomAD-2.1.1 8.61E-05
6394 10 V/L 13 rs370515485 0.4009 None gnomAD-3.1.2 3.94E-05
6394 10 V/L 13 rs370515485 0.4009 None gnomAD-4.0.0 3.55271E-05
6395 11 D/G 14 None 0.6048 None gnomAD-4.0.0 6.87558E-07
6397 13 T/M 18 rs199564845 0.5548 None gnomAD-2.1.1 2.82E-05
6397 13 T/M 18 rs199564845 0.5548 None gnomAD-3.1.2 5.92E-05
6397 13 T/M 18 rs199564845 0.5548 None gnomAD-4.0.0 2.79825E-05
6398 14 E/A 23 rs756732703 0.3860 None gnomAD-2.1.1 4.03E-06
6398 14 E/A 23 rs756732703 0.3860 None gnomAD-4.0.0 4.81468E-06
6400 16 D/E 25 rs753234087 0.5068 None gnomAD-2.1.1 4.03E-06
6400 16 D/E 25 rs753234087 0.5068 None gnomAD-4.0.0 1.59866E-06
6400 16 D/V 25 None 0.5068 None gnomAD-4.0.0 1.20032E-06
6400 16 D/Y 25 rs2079819482 0.5068 None gnomAD-3.1.2 6.57E-06
6400 16 D/Y 25 rs2079819482 0.5068 None gnomAD-4.0.0 1.86303E-06
6401 17 P/L 26 rs779496338 0.4295 None gnomAD-2.1.1 4.03E-06
6401 17 P/L 26 rs779496338 0.4295 None gnomAD-4.0.0 1.59847E-06
6402 18 M/T 28 rs1268309891 0.1493 None gnomAD-3.1.2 6.57E-06
6402 18 M/T 28 rs1268309891 0.1493 None gnomAD-4.0.0 6.57117E-06
6402 18 M/V 28 rs72648954 0.1493 None gnomAD-2.1.1 5.29019E-03
6402 18 M/V 28 rs72648954 0.1493 None gnomAD-3.1.2 1.52917E-02
6402 18 M/V 28 rs72648954 0.1493 None 1000 genomes 1.4976E-02
6402 18 M/V 28 rs72648954 0.1493 None gnomAD-4.0.0 3.12341E-03
6403 19 T/N 29 rs764889206 0.3174 None gnomAD-2.1.1 4.03E-06
6403 19 T/N 29 rs764889206 0.3174 None gnomAD-4.0.0 1.43738E-05
6403 19 T/S 29 rs1466667894 0.3174 None gnomAD-2.1.1 4.03E-06
6403 19 T/S 29 rs1466667894 0.3174 None gnomAD-4.0.0 1.59729E-06
6404 20 L/S 30 None 0.1601 None gnomAD-4.0.0 2.05425E-06
6405 21 E/Q 31 rs1431926097 0.4442 None gnomAD-2.1.1 4.03E-06
6405 21 E/Q 31 rs1431926097 0.4442 None gnomAD-4.0.0 1.59412E-06
6406 22 C/Y 33 None 0.0727 None gnomAD-4.0.0 1.59331E-06
6407 23 V/A 34 rs747444832 0.2293 None gnomAD-4.0.0 7.52968E-06
6408 24 V/A 35 None 0.1275 None gnomAD-4.0.0 6.84496E-07
6408 24 V/G 35 None 0.1275 None gnomAD-4.0.0 1.36899E-06
6408 24 V/M 35 rs2154306642 0.1275 None gnomAD-4.0.0 1.20032E-06
6412 28 P/Q 42 None 0.6719 None gnomAD-4.0.0 3.60097E-06
6415 31 K/E 45 rs1236523365 0.6385 None gnomAD-2.1.1 4.03E-06
6415 31 K/E 45 rs1236523365 0.6385 None gnomAD-4.0.0 1.59233E-06
6415 31 K/N 45 None 0.6385 None gnomAD-4.0.0 1.20032E-06
6415 31 K/R 45 rs775494513 0.6385 None gnomAD-2.1.1 8.06E-06
6415 31 K/R 45 rs775494513 0.6385 None gnomAD-4.0.0 2.73757E-06
6416 32 V/G 46 rs1431823102 0.3122 None gnomAD-2.1.1 3.19E-05
6416 32 V/G 46 rs1431823102 0.3122 None gnomAD-3.1.2 6.57E-06
6416 32 V/G 46 rs1431823102 0.3122 None gnomAD-4.0.0 6.57333E-06
6417 33 K/E 47 rs771838033 0.3779 None gnomAD-2.1.1 4.03E-06
6417 33 K/E 47 rs771838033 0.3779 None gnomAD-3.1.2 1.31E-05
6417 33 K/E 47 rs771838033 0.3779 None gnomAD-4.0.0 3.71904E-06
6417 33 K/T 47 None 0.3779 None gnomAD-4.0.0 6.84403E-07
6418 34 W/L 48 rs1255477670 0.1209 None gnomAD-2.1.1 4.03E-06
6418 34 W/L 48 rs1255477670 0.1209 None gnomAD-4.0.0 1.59231E-06
6419 35 L/F 49 None 0.1749 None gnomAD-4.0.0 1.20032E-06
6419 35 L/R 49 None 0.1749 None gnomAD-4.0.0 3.1847E-06
6420 36 K/N 50 None 0.1678 None gnomAD-4.0.0 6.84418E-07
6420 36 K/Q 50 None 0.1678 None gnomAD-4.0.0 1.20032E-06
6420 36 K/T 50 None 0.1678 None gnomAD-4.0.0 3.18468E-06
6422 38 G/R 52 rs774524508 0.4862 None gnomAD-2.1.1 2.51E-05
6422 38 G/R 52 rs774524508 0.4862 None gnomAD-3.1.2 1.32E-05
6422 38 G/R 52 rs774524508 0.4862 None gnomAD-4.0.0 2.35562E-05
6423 39 K/E 55 rs771317701 0.8297 None gnomAD-2.1.1 4.03E-06
6423 39 K/E 55 rs771317701 0.8297 None gnomAD-4.0.0 1.59238E-06
6424 40 Q/H 56 rs749497096 0.6115 None gnomAD-2.1.1 4.03E-06
6424 40 Q/H 56 rs749497096 0.6115 None gnomAD-4.0.0 1.59234E-06
6425 41 I/M 58 rs1306888379 0.1376 None gnomAD-2.1.1 4.03E-06
6425 41 I/M 58 rs1306888379 0.1376 None gnomAD-4.0.0 6.84414E-07
6425 41 I/V 58 rs1375877907 0.1376 None gnomAD-2.1.1 4.03E-06
6426 42 V/F 59 rs778339438 0.7200 None gnomAD-4.0.0 1.16351E-05
6426 42 V/I 59 rs778339438 0.7200 None gnomAD-2.1.1 4.03E-06
6426 42 V/I 59 rs778339438 0.7200 None gnomAD-4.0.0 3.42207E-06
6427 43 P/H 70 None 0.5626 None gnomAD-4.0.0 1.20032E-06
6427 43 P/S 70 rs770277382 0.5626 None gnomAD-2.1.1 4.03E-05
6427 43 P/S 70 rs770277382 0.5626 None gnomAD-3.1.2 2.63E-05
6427 43 P/S 70 rs770277382 0.5626 None gnomAD-4.0.0 1.92304E-05
6427 43 P/T 70 None 0.5626 None gnomAD-4.0.0 1.59247E-06
6428 44 S/C 73 rs727505137 0.2853 None gnomAD-3.1.2 6.57E-06
6428 44 S/C 73 rs727505137 0.2853 None gnomAD-4.0.0 6.40932E-06
6428 44 S/I 73 rs748391553 0.2853 None gnomAD-2.1.1 4.03E-06
6428 44 S/I 73 rs748391553 0.2853 None gnomAD-4.0.0 1.59246E-06
6428 44 S/T 73 None 0.2853 None gnomAD-4.0.0 1.59246E-06
6430 46 Y/C 115 rs781726929 0.1860 None gnomAD-2.1.1 1.61E-05
6430 46 Y/C 115 rs781726929 0.1860 None gnomAD-4.0.0 2.7377E-06
6432 48 S/L 122 None 0.4261 None gnomAD-4.0.0 6.84443E-07
6433 49 M/T 123 None 0.3262 None gnomAD-4.0.0 1.20032E-06
6434 50 S/G 125 rs1378850655 0.4443 None gnomAD-2.1.1 4.03E-06
6434 50 S/G 125 rs1378850655 0.4443 None gnomAD-4.0.0 1.59252E-06
6434 50 S/N 125 rs11888217 0.4443 None gnomAD-2.1.1 7.12741E-02
6434 50 S/N 125 rs11888217 0.4443 None gnomAD-3.1.2 5.95512E-02
6434 50 S/N 125 rs11888217 0.4443 None 1000 genomes 9.32508E-02
6434 50 S/N 125 rs11888217 0.4443 None gnomAD-4.0.0 4.38879E-02
6436 52 E/A 130 rs778366508 0.7348 None gnomAD-2.1.1 4.03E-06
6436 52 E/A 130 rs778366508 0.7348 None gnomAD-4.0.0 1.59258E-06
6437 53 N/Y 131 None 0.9077 None gnomAD-4.0.0 1.20032E-06
6439 55 V/M 135 rs727505289 0.2630 None gnomAD-2.1.1 1.61E-05
6439 55 V/M 135 rs727505289 0.2630 None gnomAD-3.1.2 6.57E-06
6439 55 V/M 135 rs727505289 0.2630 None gnomAD-4.0.0 1.42585E-05
6440 56 A/T 136 rs1484285596 0.0731 None gnomAD-4.0.0 2.73792E-06
6443 59 R/S 139 rs1217984218 0.2903 None gnomAD-4.0.0 6.84456E-07
6444 60 I/M 140 None 0.0708 None gnomAD-4.0.0 1.20032E-06
6447 63 V/A 144 rs1270776568 0.0998 None gnomAD-3.1.2 1.31E-05
6447 63 V/A 144 rs1270776568 0.0998 None gnomAD-4.0.0 1.31482E-05
6448 64 M/I 145 None 0.3503 None gnomAD-4.0.0 1.59276E-06
6448 64 M/V 145 rs1305903315 0.3503 None gnomAD-3.1.2 1.31E-05
6448 64 M/V 145 rs1305903315 0.3503 None gnomAD-4.0.0 6.81902E-06
6449 65 K/R 146 rs1282291767 0.6629 None gnomAD-2.1.1 4.03E-06
6449 65 K/R 146 rs1282291767 0.6629 None gnomAD-4.0.0 1.59264E-06
6450 66 Q/E 148 None 0.6595 None gnomAD-4.0.0 2.73794E-06
6451 67 D/G 149 None 0.1361 None gnomAD-4.0.0 1.20032E-06
6451 67 D/N 149 rs763946767 0.1361 None gnomAD-2.1.1 4.03E-06
6451 67 D/N 149 rs763946767 0.1361 None gnomAD-4.0.0 2.73801E-06
6452 68 S/G 151 rs1352966588 0.2728 None gnomAD-4.0.0 1.36899E-05
6452 68 S/R 151 rs369275615 0.2728 None gnomAD-4.0.0 6.84557E-07
6453 69 G/D 152 None 0.2193 None gnomAD-4.0.0 2.40064E-06
6453 69 G/R 152 rs374964612 0.2193 None gnomAD-2.1.1 4.03E-06
6453 69 G/R 152 rs374964612 0.2193 None gnomAD-3.1.2 1.32E-05
6453 69 G/R 152 rs374964612 0.2193 None gnomAD-4.0.0 2.47994E-06
6453 69 G/S 152 rs374964612 0.2193 None gnomAD-2.1.1 3.63E-05
6453 69 G/S 152 rs374964612 0.2193 None gnomAD-3.1.2 6.58E-05
6453 69 G/S 152 rs374964612 0.2193 None gnomAD-4.0.0 7.56381E-05
6454 70 Q/L 153 None 0.2657 None gnomAD-4.0.0 1.20032E-06
6456 72 T/N 155 None 0.1809 None gnomAD-4.0.0 6.84534E-07
6456 72 T/S 155 None 0.1809 None gnomAD-4.0.0 2.0536E-06
6457 73 F/I 156 None 0.0751 None gnomAD-4.0.0 1.59309E-06
6457 73 F/L 156 rs2079784971 0.0751 None gnomAD-4.0.0 1.59322E-06
6457 73 F/S 156 rs2079785463 0.0751 None gnomAD-4.0.0 2.40064E-06
6458 74 K/R 157 None 0.3953 None gnomAD-4.0.0 2.40064E-06
6459 75 V/L 158 None 0.0968 None gnomAD-4.0.0 6.84594E-07
6459 75 V/M 158 rs759353216 0.0968 None gnomAD-2.1.1 1.61E-05
6459 75 V/M 158 rs759353216 0.0968 None gnomAD-3.1.2 6.57E-06
6459 75 V/M 158 rs759353216 0.0968 None gnomAD-4.0.0 5.58018E-06
6460 76 E/G 159 rs766551817 0.4511 None gnomAD-2.1.1 4.04E-06
6460 76 E/G 159 rs766551817 0.4511 None gnomAD-4.0.0 2.73873E-06
6460 76 E/V 159 None 0.4511 None gnomAD-4.0.0 6.84682E-07
6461 77 N/K 161 rs76771282 0.1620 None gnomAD-2.1.1 4.04E-06
6461 77 N/K 161 rs76771282 0.1620 None gnomAD-4.0.0 6.84733E-07
6462 78 D/A 162 rs1419616263 0.8754 None gnomAD-2.1.1 4.04E-06
6462 78 D/A 162 rs1419616263 0.8754 None gnomAD-4.0.0 2.05436E-06
6463 79 F/L 163 rs267599062 0.8466 None gnomAD-2.1.1 4.04E-06
6463 79 F/L 163 rs267599062 0.8466 None gnomAD-4.0.0 1.23278E-05
6464 80 G/E 164 None 0.2630 None gnomAD-4.0.0 1.59491E-06
6464 80 G/R 164 rs755082868 0.2630 None gnomAD-3.1.2 6.58E-06
6464 80 G/R 164 rs755082868 0.2630 None gnomAD-4.0.0 6.57505E-06
6465 81 S/N 165 rs796474434 0.6146 None gnomAD-4.0.0 1.20032E-06
6466 82 S/G 166 None 0.2081 None gnomAD-4.0.0 1.20033E-06
6467 83 S/I 168 None 0.3725 None gnomAD-4.0.0 6.85099E-07
6467 83 S/R 168 rs1454652385 0.3725 None gnomAD-4.0.0 1.59575E-06
6468 84 C/S 169 rs776818687 0.1468 None gnomAD-2.1.1 4.05E-06
6468 84 C/S 169 rs776818687 0.1468 None gnomAD-4.0.0 3.19324E-06
6470 86 A/D 172 None 0.1306 None gnomAD-2.1.1 4.05E-06
6470 86 A/D 172 None 0.1306 None gnomAD-4.0.0 6.85733E-07
6470 86 A/G 172 rs780014505 0.1306 None gnomAD-2.1.1 4.05E-06
6470 86 A/G 172 rs780014505 0.1306 None gnomAD-3.1.2 6.57E-06
6470 86 A/G 172 rs780014505 0.1306 None gnomAD-4.0.0 1.24193E-06
6470 86 A/S 172 rs2079777866 0.1306 None gnomAD-4.0.0 4.79822E-06
6470 86 A/V 172 rs780014505 0.1306 None gnomAD-2.1.1 4.05E-06
6470 86 A/V 172 rs780014505 0.1306 None gnomAD-3.1.2 6.57E-06
6470 86 A/V 172 rs780014505 0.1306 None gnomAD-4.0.0 6.20965E-06
6471 87 Y/C 173 None 0.4768 None gnomAD-4.0.0 2.05747E-06
6472 88 L/I 174 None 0.1311 None gnomAD-4.0.0 1.60041E-06
6473 89 R/I 175 rs747454325 0.6092 None gnomAD-2.1.1 1.8E-05
6473 89 R/I 175 rs747454325 0.6092 None gnomAD-3.1.2 3.29E-05
6473 89 R/I 175 rs747454325 0.6092 None gnomAD-4.0.0 6.21323E-06
6474 90 V/M 177 None 0.1834 None gnomAD-4.0.0 1.60553E-06