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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3466 2 S/G 2 None 0.4353 None gnomAD-4.0.0 1.60981E-06
3466 2 S/N 2 None 0.4353 None gnomAD-4.0.0 1.60964E-06
3466 2 S/R 2 rs760613487 0.4353 None gnomAD-2.1.1 4.09E-06
3466 2 S/T 2 rs533542171 0.4353 None gnomAD-2.1.1 4.1E-06
3466 2 S/T 2 rs533542171 0.4353 None gnomAD-3.1.2 6.57E-06
3466 2 S/T 2 rs533542171 0.4353 None 1000 genomes 1.99681E-04
3466 2 S/T 2 rs533542171 0.4353 None gnomAD-4.0.0 6.56711E-06
3469 5 Q/H 5 rs775464538 0.4233 None gnomAD-2.1.1 4.06E-06
3469 5 Q/H 5 rs775464538 0.4233 None gnomAD-4.0.0 4.8027E-06
3469 5 Q/P 5 None 0.4233 None gnomAD-4.0.0 1.6004E-06
3470 6 P/A 7 None 0.4532 None gnomAD-4.0.0 6.8596E-07
3470 6 P/L 7 rs1331859754 0.4532 None gnomAD-2.1.1 4.04E-06
3470 6 P/L 7 rs1331859754 0.4532 None gnomAD-3.1.2 6.57E-06
3470 6 P/L 7 rs1331859754 0.4532 None gnomAD-4.0.0 2.57061E-06
3470 6 P/S 7 rs767525312 0.4532 None gnomAD-2.1.1 8.12E-06
3470 6 P/S 7 rs767525312 0.4532 None gnomAD-4.0.0 2.05788E-06
3470 6 P/T 7 rs767525312 0.4532 None gnomAD-2.1.1 4.06E-06
3470 6 P/T 7 rs767525312 0.4532 None gnomAD-4.0.0 1.37192E-06
3471 7 L/V 8 rs373569134 0.1741 None gnomAD-2.1.1 1.79E-05
3471 7 L/V 8 rs373569134 0.1741 None gnomAD-3.1.2 1.97E-05
3471 7 L/V 8 rs373569134 0.1741 None gnomAD-4.0.0 2.23413E-05
3472 8 S/L 9 None 0.6176 None gnomAD-4.0.0 1.59549E-06
3472 8 S/P 9 rs1429881262 0.6176 None gnomAD-3.1.2 6.57E-06
3472 8 S/P 9 rs1429881262 0.6176 None gnomAD-4.0.0 2.56784E-06
3473 9 S/I 11 rs1574398380 0.4269 None gnomAD-4.0.0 1.59454E-06
3475 11 R/K 14 None 0.7097 None gnomAD-4.0.0 1.59276E-06
3476 12 V/G 16 None 0.1707 None gnomAD-4.0.0 1.59243E-06
3476 12 V/M 16 rs774551356 0.1707 None gnomAD-2.1.1 7.15E-06
3476 12 V/M 16 rs774551356 0.1707 None gnomAD-3.1.2 1.97E-05
3476 12 V/M 16 rs774551356 0.1707 None gnomAD-4.0.0 1.97011E-05
3477 13 H/P 18 rs1158438965 0.8231 None gnomAD-3.1.2 6.57E-06
3477 13 H/P 18 rs1158438965 0.8231 None gnomAD-4.0.0 6.57142E-06
3477 13 H/R 18 rs1158438965 0.8231 None gnomAD-4.0.0 1.59167E-06
3478 14 N/D 23 rs771324532 0.5997 None gnomAD-2.1.1 4.02E-06
3478 14 N/D 23 rs771324532 0.5997 None gnomAD-4.0.0 1.59162E-06
3478 14 N/K 23 None 0.5997 None gnomAD-4.0.0 1.36854E-06
3478 14 N/S 23 None 0.5997 None gnomAD-4.0.0 1.20034E-06
3479 15 G/R 24 rs746691102 0.2355 None gnomAD-2.1.1 6.79E-05
3479 15 G/R 24 rs746691102 0.2355 None gnomAD-3.1.2 5.26E-05
3479 15 G/R 24 rs746691102 0.2355 None gnomAD-4.0.0 7.1275E-05
3480 16 E/D 25 rs267599081 0.3002 None gnomAD-2.1.1 8.04E-06
3480 16 E/D 25 rs267599081 0.3002 None gnomAD-4.0.0 2.05275E-06
3480 16 E/V 25 rs1023713962 0.3002 None gnomAD-2.1.1 8.04E-06
3480 16 E/V 25 rs1023713962 0.3002 None gnomAD-4.0.0 1.77899E-05
3481 17 T/A 26 rs748619545 0.3207 None gnomAD-2.1.1 4.02E-06
3481 17 T/A 26 rs748619545 0.3207 None gnomAD-4.0.0 1.59133E-06
3482 18 V/I 28 rs1553970119 0.1214 None gnomAD-4.0.0 2.73693E-06
3484 20 F/I 30 rs1031005572 0.1202 None gnomAD-2.1.1 4.02E-06
3484 20 F/I 30 rs1031005572 0.1202 None gnomAD-3.1.2 6.57E-06
3484 20 F/I 30 rs1031005572 0.1202 None gnomAD-4.0.0 6.57212E-06
3484 20 F/Y 30 rs757971157 0.1202 None gnomAD-2.1.1 4.02E-06
3484 20 F/Y 30 rs757971157 0.1202 None gnomAD-4.0.0 3.18261E-06
3485 21 H/N 31 rs376698955 0.6013 None gnomAD-2.1.1 4.02E-06
3485 21 H/P 31 None 0.6013 None gnomAD-4.0.0 4.8013E-06
3486 22 A/E 33 rs374093805 0.0993 None gnomAD-2.1.1 4.02E-06
3486 22 A/E 33 rs374093805 0.0993 None gnomAD-4.0.0 1.36845E-06
3486 22 A/T 33 rs2087755569 0.0993 None gnomAD-3.1.2 6.57E-06
3486 22 A/T 33 rs2087755569 0.0993 None gnomAD-4.0.0 6.57298E-06
3486 22 A/V 33 rs374093805 0.0993 None gnomAD-2.1.1 1.67779E-04
3486 22 A/V 33 rs374093805 0.0993 None gnomAD-3.1.2 3.29E-05
3486 22 A/V 33 rs374093805 0.0993 None 1000 genomes 1.99681E-04
3486 22 A/V 33 rs374093805 0.0993 None gnomAD-4.0.0 7.684E-05
3487 23 R/G 34 rs547792470 0.4269 None gnomAD-2.1.1 2.41E-05
3487 23 R/G 34 rs547792470 0.4269 None gnomAD-3.1.2 6.57E-06
3487 23 R/G 34 rs547792470 0.4269 None 1000 genomes 1.99681E-04
3487 23 R/G 34 rs547792470 0.4269 None gnomAD-4.0.0 4.95719E-06
3487 23 R/K 34 rs531271853 0.4269 None gnomAD-2.1.1 4.02E-06
3487 23 R/K 34 rs531271853 0.4269 None gnomAD-3.1.2 6.57E-06
3487 23 R/K 34 rs531271853 0.4269 None 1000 genomes 1.99681E-04
3487 23 R/K 34 rs531271853 0.4269 None gnomAD-4.0.0 6.56823E-06
3487 23 R/S 34 None 0.4269 None gnomAD-4.0.0 1.59121E-06
3487 23 R/T 34 rs531271853 0.4269 None gnomAD-3.1.2 6.57E-06
3487 23 R/T 34 rs531271853 0.4269 None gnomAD-4.0.0 6.57333E-06
3488 24 V/F 35 None 0.1380 None gnomAD-4.0.0 1.59129E-06
3490 26 G/D 40 rs970694174 0.2577 None gnomAD-2.1.1 3.19E-05
3490 26 G/D 40 rs970694174 0.2577 None gnomAD-3.1.2 6.57E-06
3490 26 G/D 40 rs970694174 0.2577 None gnomAD-4.0.0 6.57454E-06
3490 26 G/S 40 rs2087749364 0.2577 None gnomAD-4.0.0 5.47355E-06
3491 27 I/V 41 None 0.9410 None gnomAD-4.0.0 1.20033E-06
3492 28 P/L 42 rs1418266828 0.3832 None gnomAD-2.1.1 8.04E-06
3492 28 P/L 42 rs1418266828 0.3832 None gnomAD-4.0.0 4.77328E-06
3492 28 P/T 42 rs1297125768 0.3832 None gnomAD-2.1.1 4.02E-06
3492 28 P/T 42 rs1297125768 0.3832 None gnomAD-4.0.0 1.59111E-06
3493 29 K/Q 43 None 0.3424 None gnomAD-4.0.0 1.59108E-06
3494 30 P/A 44 rs1561101666 0.1419 None gnomAD-2.1.1 4.02E-06
3494 30 P/A 44 rs1561101666 0.1419 None gnomAD-4.0.0 1.5911E-06
3495 31 E/D 45 None 0.7966 None gnomAD-4.0.0 3.60097E-06
3497 33 Q/R 47 None 0.4446 None gnomAD-4.0.0 1.59111E-06
3498 34 W/C 48 None 0.1315 None gnomAD-4.0.0 6.84182E-07
3501 37 N/K 51 None 0.3847 None gnomAD-4.0.0 6.84197E-07
3501 37 N/S 51 None 0.3847 None gnomAD-4.0.0 1.20037E-06
3502 38 Q/H 52 None 0.8404 None gnomAD-4.0.0 1.59111E-06
3503 39 Q/K 55 rs766605515 0.6874 None gnomAD-2.1.1 4.02E-06
3503 39 Q/K 55 rs766605515 0.6874 None gnomAD-4.0.0 3.18222E-06
3503 39 Q/P 55 rs2087738229 0.6874 None gnomAD-3.1.2 6.57E-06
3503 39 Q/P 55 rs2087738229 0.6874 None gnomAD-4.0.0 2.02992E-06
3505 41 I/M 58 rs763190523 0.1462 None gnomAD-2.1.1 1.07E-05
3505 41 I/M 58 rs763190523 0.1462 None gnomAD-4.0.0 2.3947E-05
3505 41 I/V 58 rs1416675035 0.1462 None gnomAD-3.1.2 6.57E-06
3505 41 I/V 58 rs1416675035 0.1462 None gnomAD-4.0.0 2.03002E-06
3507 43 P/L 70 rs1161132850 0.4861 None gnomAD-4.0.0 4.78932E-06
3507 43 P/S 70 rs773449874 0.4861 None gnomAD-2.1.1 1.21E-05
3507 43 P/S 70 rs773449874 0.4861 None gnomAD-3.1.2 1.31E-05
3507 43 P/S 70 rs773449874 0.4861 None gnomAD-4.0.0 3.03655E-05
3508 44 T/A 73 None 0.3735 None gnomAD-4.0.0 3.42092E-06
3508 44 T/I 73 rs397517823 0.3735 None gnomAD-3.1.2 6.57E-06
3508 44 T/I 73 rs397517823 0.3735 None gnomAD-4.0.0 9.29552E-06
3508 44 T/K 73 rs397517823 0.3735 None gnomAD-2.1.1 3.19E-05
3508 44 T/K 73 rs397517823 0.3735 None gnomAD-3.1.2 6.57E-06
3508 44 T/K 73 rs397517823 0.3735 None gnomAD-4.0.0 6.57402E-06
3508 44 T/P 73 None 0.3735 None gnomAD-4.0.0 1.36837E-06
3508 44 T/R 73 None 0.3735 None gnomAD-4.0.0 6.84198E-07
3510 46 D/E 115 None 0.5850 None gnomAD-4.0.0 1.20034E-06
3510 46 D/Y 115 rs770135769 0.5850 None gnomAD-3.1.2 6.57E-06
3510 46 D/Y 115 rs770135769 0.5850 None gnomAD-4.0.0 2.56212E-06
3511 47 V/A 121 None 0.1666 None gnomAD-4.0.0 1.59114E-06
3512 48 V/A 122 rs200918396 0.4774 None gnomAD-2.1.1 4.64E-05
3512 48 V/A 122 rs200918396 0.4774 None gnomAD-3.1.2 1.05193E-04
3512 48 V/A 122 rs200918396 0.4774 None gnomAD-4.0.0 1.61122E-05
3512 48 V/I 122 rs748663632 0.4774 None gnomAD-2.1.1 4.02E-06
3512 48 V/I 122 rs748663632 0.4774 None gnomAD-4.0.0 3.18228E-06
3513 49 F/L 123 rs771751290 0.2915 None gnomAD-2.1.1 1.39142E-04
3513 49 F/L 123 rs771751290 0.2915 None gnomAD-3.1.2 2.63E-05
3513 49 F/L 123 rs771751290 0.2915 None gnomAD-4.0.0 1.98297E-05
3513 49 F/V 123 rs771751290 0.2915 None gnomAD-3.1.2 6.57E-06
3513 49 F/V 123 rs771751290 0.2915 None gnomAD-4.0.0 6.57237E-06
3514 50 H/R 125 None 0.5853 None gnomAD-4.0.0 2.05257E-06
3515 51 F/V 127 None 0.2174 None gnomAD-4.0.0 1.20032E-06
3516 52 E/K 128 None 0.2735 None gnomAD-4.0.0 2.05257E-06
3517 53 E/K 129 None 0.4244 None gnomAD-4.0.0 6.84192E-07
3518 54 S/C 130 rs1277243327 0.5258 None gnomAD-2.1.1 4.02E-06
3518 54 S/C 130 rs1277243327 0.5258 None gnomAD-4.0.0 1.59115E-06
3518 54 S/T 130 rs745350155 0.5258 None gnomAD-2.1.1 4.02E-06
3518 54 S/T 130 rs745350155 0.5258 None gnomAD-4.0.0 3.18232E-06
3519 55 T/A 131 rs1459818579 0.3779 None gnomAD-2.1.1 3.18E-05
3520 56 G/D 134 None 0.1035 None gnomAD-4.0.0 1.20032E-06
3520 56 G/S 134 rs375297413 0.1035 None gnomAD-4.0.0 2.40064E-06
3522 58 A/T 136 rs794729587 0.1074 None gnomAD-4.0.0 4.10523E-06
3524 60 M/I 138 rs1049058784 0.0599 None gnomAD-4.0.0 1.20032E-06
3524 60 M/L 138 None 0.0599 None gnomAD-4.0.0 1.20032E-06
3526 62 I/K 140 rs727503677 0.1255 None gnomAD-2.1.1 4.02E-06
3526 62 I/K 140 rs727503677 0.1255 None gnomAD-4.0.0 6.84224E-07
3526 62 I/T 140 rs727503677 0.1255 None gnomAD-4.0.0 2.7369E-06
3526 62 I/V 140 None 0.1255 None gnomAD-4.0.0 2.40064E-06
3527 63 V/A 141 rs1355094541 0.4380 None gnomAD-3.1.2 6.57E-06
3527 63 V/A 141 rs1355094541 0.4380 None gnomAD-4.0.0 6.56901E-06
3527 63 V/F 141 rs372531162 0.4380 None gnomAD-2.1.1 9.56E-05
3527 63 V/F 141 rs372531162 0.4380 None gnomAD-3.1.2 7.89E-05
3527 63 V/F 141 rs372531162 0.4380 None gnomAD-4.0.0 9.91522E-06
3527 63 V/I 141 None 0.4380 None gnomAD-4.0.0 1.36846E-06
3527 63 V/L 141 rs372531162 0.4380 None gnomAD-2.1.1 7.14E-06
3527 63 V/L 141 rs372531162 0.4380 None gnomAD-4.0.0 5.47385E-06
3528 64 D/Y 143 None 0.4417 None gnomAD-4.0.0 1.59155E-06
3529 65 A/V 144 None 0.0775 None gnomAD-4.0.0 1.20032E-06
3530 66 Y/C 145 None 0.4005 None gnomAD-4.0.0 2.05276E-06
3530 66 Y/F 145 rs755931621 0.4005 None gnomAD-2.1.1 1.21E-05
3530 66 Y/F 145 rs755931621 0.4005 None gnomAD-3.1.2 6.57E-06
3530 66 Y/F 145 rs755931621 0.4005 None gnomAD-4.0.0 2.47891E-06
3531 67 S/L 146 None 0.5357 None gnomAD-4.0.0 1.59152E-06
3531 67 S/T 146 rs1422997760 0.5357 None gnomAD-2.1.1 4.02E-06
3531 67 S/T 146 rs1422997760 0.5357 None gnomAD-4.0.0 3.18301E-06
3532 68 E/D 148 rs368855843 0.3028 None gnomAD-2.1.1 8.05E-06
3532 68 E/D 148 rs368855843 0.3028 None gnomAD-3.1.2 1.31E-05
3532 68 E/D 148 rs368855843 0.3028 None gnomAD-4.0.0 1.9214E-05
3532 68 E/K 148 rs2087705976 0.3028 None gnomAD-4.0.0 1.20032E-06
3533 69 H/P 149 None 0.2211 None gnomAD-4.0.0 1.59176E-06
3533 69 H/Q 149 rs1351766559 0.2211 None gnomAD-4.0.0 1.59185E-06
3534 70 A/S 151 rs1205126810 0.2118 None gnomAD-3.1.2 6.57E-06
3534 70 A/S 151 rs1205126810 0.2118 None gnomAD-4.0.0 6.56978E-06
3535 71 G/A 152 None 0.1787 None gnomAD-4.0.0 1.59265E-06
3535 71 G/E 152 None 0.1787 None gnomAD-4.0.0 1.59265E-06
3535 71 G/R 152 rs374978923 0.1787 None gnomAD-2.1.1 1.21E-05
3535 71 G/R 152 rs374978923 0.1787 None gnomAD-4.0.0 1.16353E-05
3537 73 Y/C 154 rs2087695492 0.1064 None gnomAD-4.0.0 1.20032E-06
3537 73 Y/H 154 rs1553969617 0.1064 None gnomAD-4.0.0 1.20032E-06
3539 75 C/S 156 rs750647730 0.0699 None gnomAD-2.1.1 4.05E-06
3539 75 C/S 156 rs750647730 0.0699 None gnomAD-3.1.2 6.57E-06
3539 75 C/S 156 rs750647730 0.0699 None gnomAD-4.0.0 1.24271E-06
3539 75 C/W 156 None 0.0699 None gnomAD-4.0.0 6.86226E-07
3539 75 C/Y 156 None 0.0699 None gnomAD-4.0.0 1.37246E-06
3541 77 A/P 158 rs762211144 0.0892 None gnomAD-4.0.0 1.6053E-05
3542 78 A/V 159 None 0.1903 None gnomAD-4.0.0 3.21352E-06
3543 79 N/S 161 rs777330837 0.1376 None gnomAD-2.1.1 3.24E-05
3543 79 N/S 161 rs777330837 0.1376 None gnomAD-3.1.2 1.31E-05
3543 79 N/S 161 rs777330837 0.1376 None gnomAD-4.0.0 9.95109E-06
3544 80 S/G 162 rs1364238345 0.6959 None gnomAD-3.1.2 6.57E-06
3544 80 S/G 162 rs1364238345 0.6959 None gnomAD-4.0.0 6.57091E-06
3545 81 A/V 163 rs1319587121 0.5465 None gnomAD-2.1.1 4.08E-06
3545 81 A/V 163 rs1319587121 0.5465 None gnomAD-4.0.0 4.84287E-06
3546 82 G/E 164 None 0.2407 None gnomAD-4.0.0 2.75712E-06
3547 83 E/K 165 rs761225274 0.5826 None gnomAD-4.0.0 1.58622E-05
3548 84 A/G 166 rs1386570246 0.1617 None gnomAD-2.1.1 4.16E-06
3548 84 A/G 166 rs1386570246 0.1617 None gnomAD-4.0.0 1.63618E-06
3548 84 A/T 166 rs1186138216 0.1617 None gnomAD-2.1.1 3.19E-05
3548 84 A/T 166 rs1186138216 0.1617 None gnomAD-3.1.2 6.57E-06
3548 84 A/T 166 rs1186138216 0.1617 None gnomAD-4.0.0 6.57073E-06
3549 85 T/I 168 rs770691573 0.3930 None gnomAD-2.1.1 4.18E-06
3549 85 T/I 168 rs770691573 0.3930 None gnomAD-3.1.2 1.31E-05
3549 85 T/I 168 rs770691573 0.3930 None gnomAD-4.0.0 2.25601E-05
3549 85 T/S 168 rs770691573 0.3930 None gnomAD-2.1.1 4.18E-06
3549 85 T/S 168 rs770691573 0.3930 None gnomAD-4.0.0 6.92721E-07
3551 87 A/V 171 rs2154335907 0.3389 None gnomAD-4.0.0 1.64654E-06
3552 88 A/P 172 rs774004409 0.1242 None gnomAD-2.1.1 4.12E-05
3552 88 A/P 172 rs774004409 0.1242 None gnomAD-3.1.2 5.26E-05
3552 88 A/P 172 rs774004409 0.1242 None gnomAD-4.0.0 8.55714E-05
3553 89 T/I 173 rs770418018 0.4117 None gnomAD-2.1.1 7.56E-06
3553 89 T/I 173 rs770418018 0.4117 None gnomAD-3.1.2 6.57E-06
3553 89 T/I 173 rs770418018 0.4117 None gnomAD-4.0.0 1.89115E-06
3554 90 L/F 174 rs1467211206 0.0906 None gnomAD-2.1.1 4.3E-06
3554 90 L/F 174 rs1467211206 0.0906 None gnomAD-4.0.0 1.39574E-06
3554 90 L/H 174 None 0.0906 None gnomAD-4.0.0 2.0977E-06
3555 91 T/I 175 None 0.3863 None gnomAD-4.0.0 1.20032E-06
3556 92 V/M 177 rs1039409681 0.2905 None gnomAD-2.1.1 3.19E-05
3556 92 V/M 177 rs1039409681 0.2905 None gnomAD-3.1.2 6.57E-06
3556 92 V/M 177 rs1039409681 0.2905 None gnomAD-4.0.0 5.39533E-06