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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21471 3 L/F 3 rs774609456 0.5390 None gnomAD-2.1.1 4.44E-05
21471 3 L/F 3 rs774609456 0.5390 None gnomAD-4.0.0 2.17757E-05
21472 4 M/I 4 rs2048686621 0.1454 None gnomAD-3.1.2 6.58E-06
21472 4 M/I 4 rs2048686621 0.1454 None gnomAD-4.0.0 6.57903E-06
21472 4 M/L 4 None 0.1454 None gnomAD-4.0.0 1.20032E-06
21472 4 M/T 4 rs372682546 0.1454 None gnomAD-2.1.1 4.3E-06
21472 4 M/T 4 rs372682546 0.1454 None gnomAD-3.1.2 1.32E-05
21472 4 M/T 4 rs372682546 0.1454 None gnomAD-4.0.0 5.27016E-06
21476 8 I/L 13 rs898981554 0.2901 None gnomAD-2.1.1 4.09E-06
21476 8 I/L 13 rs898981554 0.2901 None gnomAD-4.0.0 2.05911E-06
21478 10 I/M 16 None 0.1464 None gnomAD-4.0.0 1.59992E-06
21478 10 I/V 16 None 0.1464 None gnomAD-4.0.0 6.85842E-06
21480 12 A/T 23 None 0.2489 None gnomAD-4.0.0 6.85782E-07
21481 13 G/A 24 None 0.3802 None gnomAD-4.0.0 1.20032E-06
21481 13 G/R 24 rs1341234616 0.3802 None gnomAD-2.1.1 4.05E-06
21481 13 G/R 24 rs1341234616 0.3802 None gnomAD-4.0.0 1.02826E-05
21482 14 K/E 25 rs113935908 0.5895 None gnomAD-4.0.0 2.74144E-06
21482 14 K/N 25 rs1232234781 0.5895 None gnomAD-2.1.1 4.05E-06
21482 14 K/N 25 rs1232234781 0.5895 None gnomAD-4.0.0 1.59755E-06
21483 15 K/I 26 None 0.4910 None gnomAD-4.0.0 6.85315E-07
21483 15 K/R 26 rs1368411917 0.4910 None gnomAD-2.1.1 8.1E-06
21483 15 K/R 26 rs1368411917 0.4910 None gnomAD-4.0.0 2.05595E-06
21484 16 L/P 28 None 0.1630 None gnomAD-4.0.0 1.59651E-06
21484 16 L/V 28 None 0.1630 None gnomAD-4.0.0 1.20032E-06
21485 17 R/Q 29 rs746903647 0.3603 None gnomAD-2.1.1 2.43E-05
21485 17 R/Q 29 rs746903647 0.3603 None gnomAD-3.1.2 1.32E-05
21485 17 R/Q 29 rs746903647 0.3603 None gnomAD-4.0.0 2.66823E-05
21486 18 I/F 30 rs779988742 0.1369 None gnomAD-2.1.1 4.05E-06
21486 18 I/F 30 rs779988742 0.1369 None gnomAD-3.1.2 6.58E-06
21486 18 I/F 30 rs779988742 0.1369 None gnomAD-4.0.0 4.96352E-06
21486 18 I/N 30 None 0.1369 None gnomAD-4.0.0 4.79534E-06
21486 18 I/T 30 None 0.1369 None gnomAD-4.0.0 6.85048E-07
21487 19 E/D 31 rs2048679694 0.3257 None gnomAD-3.1.2 6.58E-06
21487 19 E/D 31 rs2048679694 0.3257 None gnomAD-4.0.0 2.56766E-06
21487 19 E/K 31 rs1485546407 0.3257 None gnomAD-3.1.2 1.32E-05
21487 19 E/K 31 rs1485546407 0.3257 None gnomAD-4.0.0 4.96307E-06
21488 20 A/D 33 None 0.0957 None gnomAD-4.0.0 2.40065E-06
21488 20 A/S 33 rs374992146 0.0957 None gnomAD-2.1.1 4.04E-06
21488 20 A/S 33 rs374992146 0.0957 None gnomAD-4.0.0 1.59512E-06
21488 20 A/T 33 rs374992146 0.0957 None gnomAD-2.1.1 4.04E-06
21488 20 A/T 33 rs374992146 0.0957 None gnomAD-4.0.0 1.59512E-06
21489 21 H/Q 34 rs533088470 0.5065 None gnomAD-2.1.1 3.19E-05
21489 21 H/Q 34 rs533088470 0.5065 None gnomAD-3.1.2 6.58E-06
21489 21 H/Q 34 rs533088470 0.5065 None gnomAD-4.0.0 6.5773E-06
21489 21 H/R 34 None 0.5065 None gnomAD-4.0.0 1.5938E-06
21489 21 H/Y 34 rs1412094100 0.5065 None gnomAD-2.1.1 8.07E-06
21489 21 H/Y 34 rs1412094100 0.5065 None gnomAD-4.0.0 6.84695E-06
21490 22 V/A 35 None 0.1491 None gnomAD-4.0.0 1.59329E-06
21490 22 V/L 35 rs138858121 0.1491 None gnomAD-2.1.1 8.06E-06
21490 22 V/L 35 rs138858121 0.1491 None gnomAD-3.1.2 6.58E-06
21490 22 V/L 35 rs138858121 0.1491 None 1000 genomes 1.99681E-04
21490 22 V/L 35 rs138858121 0.1491 None gnomAD-4.0.0 3.84789E-06
21491 23 Y/C 38 rs757450750 0.5845 None gnomAD-2.1.1 2.86E-05
21491 23 Y/C 38 rs757450750 0.5845 None gnomAD-3.1.2 1.32E-05
21491 23 Y/C 38 rs757450750 0.5845 None gnomAD-4.0.0 1.2821E-05
21492 24 G/E 40 rs879135883 0.3049 None gnomAD-3.1.2 1.97E-05
21492 24 G/E 40 rs879135883 0.3049 None gnomAD-4.0.0 5.0755E-06
21492 24 G/R 40 None 0.3049 None gnomAD-4.0.0 1.20033E-06
21494 26 P/L 42 rs587780492 0.5170 None gnomAD-2.1.1 1.79E-05
21494 26 P/L 42 rs587780492 0.5170 None gnomAD-3.1.2 1.32E-05
21494 26 P/L 42 rs587780492 0.5170 None gnomAD-4.0.0 2.54172E-05
21495 27 H/Y 43 None 0.7452 None gnomAD-4.0.0 1.20032E-06
21496 28 P/A 44 None 0.2095 None gnomAD-4.0.0 6.84413E-07
21496 28 P/R 44 rs764155651 0.2095 None gnomAD-2.1.1 4.03E-06
21496 28 P/R 44 rs764155651 0.2095 None gnomAD-4.0.0 1.5924E-06
21496 28 P/S 44 rs1174418465 0.2095 None gnomAD-2.1.1 8.06E-06
21496 28 P/S 44 rs1174418465 0.2095 None gnomAD-4.0.0 1.36883E-06
21497 29 T/I 45 rs1236376736 0.6636 None gnomAD-2.1.1 4.03E-06
21497 29 T/I 45 rs1236376736 0.6636 None gnomAD-4.0.0 1.36883E-06
21498 30 C/Y 46 rs752724337 0.2425 None gnomAD-2.1.1 8.06E-06
21498 30 C/Y 46 rs752724337 0.2425 None gnomAD-4.0.0 1.59235E-05
21500 32 W/R 48 rs2048669165 0.1567 None gnomAD-3.1.2 6.59E-06
21500 32 W/R 48 rs2048669165 0.1567 None gnomAD-4.0.0 6.58831E-06
21501 33 K/I 49 rs1251141163 0.3397 None gnomAD-2.1.1 4.03E-06
21501 33 K/I 49 rs1251141163 0.3397 None gnomAD-4.0.0 1.59228E-06
21502 34 K/E 50 rs1199736147 0.2412 None gnomAD-2.1.1 1.21E-05
21502 34 K/E 50 rs1199736147 0.2412 None gnomAD-4.0.0 4.77681E-06
21503 35 G/E 51 rs768027450 0.3695 None gnomAD-2.1.1 4.03E-06
21503 35 G/E 51 rs768027450 0.3695 None gnomAD-4.0.0 1.20032E-06
21503 35 G/R 51 rs1559535271 0.3695 None gnomAD-2.1.1 4.03E-06
21503 35 G/R 51 rs1559535271 0.3695 None gnomAD-4.0.0 1.59229E-06
21503 35 G/V 51 None 0.3695 None gnomAD-4.0.0 1.20032E-06
21505 37 D/N 55 None 0.7649 None gnomAD-4.0.0 1.20033E-06
21507 39 V/F 58 None 0.2174 None gnomAD-4.0.0 2.40064E-06
21507 39 V/L 58 None 0.2174 None gnomAD-4.0.0 6.00161E-06
21508 40 V/F 59 None 0.7664 None gnomAD-4.0.0 2.73761E-06
21508 40 V/I 59 rs759982511 0.7664 None gnomAD-2.1.1 1.61E-05
21508 40 V/I 59 rs759982511 0.7664 None gnomAD-3.1.2 6.57E-06
21508 40 V/I 59 rs759982511 0.7664 None gnomAD-4.0.0 3.90521E-05
21509 41 T/I 70 None 0.5790 None gnomAD-4.0.0 1.20032E-06
21510 42 S/P 73 None 0.3162 None gnomAD-4.0.0 1.59229E-06
21511 43 S/R 109 None 0.7649 None gnomAD-4.0.0 1.20032E-06
21512 44 H/L 115 rs774754081 0.3763 None gnomAD-2.1.1 1.79E-05
21512 44 H/L 115 rs774754081 0.3763 None gnomAD-3.1.2 6.57E-05
21512 44 H/L 115 rs774754081 0.3763 None gnomAD-4.0.0 1.17773E-05
21514 46 A/V 122 rs1060500520 0.2139 None gnomAD-4.0.0 2.05314E-06
21515 47 V/A 123 rs1443712213 0.2513 None gnomAD-2.1.1 4.03E-06
21515 47 V/A 123 rs1443712213 0.2513 None gnomAD-4.0.0 1.59217E-06
21515 47 V/L 123 None 0.2513 None gnomAD-4.0.0 1.59219E-06
21515 47 V/M 123 rs1277307313 0.2513 None gnomAD-2.1.1 4.03E-06
21515 47 V/M 123 rs1277307313 0.2513 None gnomAD-4.0.0 1.59219E-06
21518 50 A/P 130 None 0.4123 None gnomAD-4.0.0 1.20032E-06
21519 51 D/E 131 rs1336928920 0.9495 None gnomAD-2.1.1 4.03E-06
21519 51 D/E 131 rs1336928920 0.9495 None gnomAD-4.0.0 6.84384E-07
21521 53 S/F 135 rs766887868 0.2065 None gnomAD-2.1.1 4.03E-06
21521 53 S/F 135 rs766887868 0.2065 None gnomAD-4.0.0 1.59226E-06
21523 55 I/V 137 rs761550336 0.1476 None gnomAD-2.1.1 8.06E-06
21523 55 I/V 137 rs761550336 0.1476 None gnomAD-4.0.0 1.11455E-05
21524 56 L/V 138 rs1378663120 0.0903 None gnomAD-2.1.1 8.06E-06
21524 56 L/V 138 rs1378663120 0.0903 None gnomAD-4.0.0 3.18443E-06
21526 58 I/T 140 rs776476433 0.1061 None gnomAD-2.1.1 1.21E-05
21526 58 I/T 140 rs776476433 0.1061 None gnomAD-4.0.0 3.42188E-06
21526 58 I/V 140 rs1160431016 0.1061 None gnomAD-2.1.1 4.03E-06
21526 58 I/V 140 rs1160431016 0.1061 None gnomAD-4.0.0 1.59227E-06
21528 60 D/N 143 rs2048653243 0.6207 None gnomAD-3.1.2 6.58E-06
21528 60 D/N 143 rs2048653243 0.6207 None gnomAD-4.0.0 5.12722E-06
21530 62 T/N 145 None 0.3357 None gnomAD-4.0.0 1.20032E-06
21532 64 K/E 148 rs794729477 0.8992 None gnomAD-2.1.1 1.21E-05
21532 64 K/E 148 rs794729477 0.8992 None gnomAD-4.0.0 9.55338E-06
21533 65 D/Y 149 rs1484580543 0.1653 None gnomAD-2.1.1 4.03E-06
21533 65 D/Y 149 rs1484580543 0.1653 None gnomAD-4.0.0 1.59231E-06
21534 66 S/G 151 rs768431801 0.2718 None gnomAD-2.1.1 4.03E-06
21535 67 G/S 152 rs746465231 0.2316 None gnomAD-2.1.1 8.06E-06
21535 67 G/S 152 rs746465231 0.2316 None gnomAD-3.1.2 6.58E-06
21535 67 G/S 152 rs746465231 0.2316 None gnomAD-4.0.0 1.8597E-06
21536 68 Y/C 153 rs551977619 0.5634 None gnomAD-2.1.1 4.03E-06
21536 68 Y/C 153 rs551977619 0.5634 None gnomAD-3.1.2 6.57E-06
21536 68 Y/C 153 rs551977619 0.5634 None 1000 genomes 1.99681E-04
21536 68 Y/C 153 rs551977619 0.5634 None gnomAD-4.0.0 6.56797E-06
21536 68 Y/H 153 rs1487784985 0.5634 None gnomAD-2.1.1 4.03E-06
21536 68 Y/H 153 rs1487784985 0.5634 None gnomAD-3.1.2 6.57E-06
21536 68 Y/H 153 rs1487784985 0.5634 None gnomAD-4.0.0 2.47949E-06
21537 69 Y/H 154 None 0.1440 None gnomAD-4.0.0 1.20032E-06
21538 70 S/G 155 rs1297730026 0.1803 None gnomAD-4.0.0 4.7781E-06
21539 71 L/F 156 rs1060500431 0.0743 None gnomAD-3.1.2 6.58E-06
21539 71 L/F 156 rs1060500431 0.0743 None gnomAD-4.0.0 2.56433E-06
21540 72 T/I 157 rs1284135964 0.2740 None gnomAD-2.1.1 4.03E-06
21540 72 T/I 157 rs1284135964 0.2740 None gnomAD-4.0.0 1.36907E-06
21540 72 T/R 157 None 0.2740 None gnomAD-4.0.0 6.84537E-07
21543 75 N/H 161 rs745843637 0.1797 None gnomAD-2.1.1 4.03E-06
21543 75 N/H 161 rs745843637 0.1797 None gnomAD-4.0.0 1.59374E-06
21543 75 N/K 161 rs2048644499 0.1797 None gnomAD-3.1.2 6.57E-06
21543 75 N/K 161 rs2048644499 0.1797 None gnomAD-4.0.0 6.57436E-06
21544 76 S/N 162 rs1231941272 0.6681 None gnomAD-2.1.1 4.04E-06
21544 76 S/N 162 rs1231941272 0.6681 None gnomAD-4.0.0 1.5953E-06
21546 78 G/A 164 None 0.3515 None gnomAD-4.0.0 1.59653E-06
21546 78 G/R 164 None 0.3515 None gnomAD-4.0.0 3.60097E-06
21547 79 T/K 165 rs528663658 0.4903 None gnomAD-2.1.1 4.04E-06
21547 79 T/K 165 rs528663658 0.4903 None 1000 genomes 1.99681E-04
21547 79 T/K 165 rs528663658 0.4903 None gnomAD-4.0.0 2.40064E-06
21547 79 T/P 165 rs1357789824 0.4903 None gnomAD-2.1.1 1.21E-05
21547 79 T/P 165 rs1357789824 0.4903 None gnomAD-4.0.0 2.05536E-06
21548 80 D/E 166 None 0.3428 None gnomAD-4.0.0 1.60851E-06
21548 80 D/Y 166 rs749070255 0.3428 None gnomAD-2.1.1 7.26E-06
21548 80 D/Y 166 rs749070255 0.3428 None gnomAD-3.1.2 1.31E-05
21548 80 D/Y 166 rs749070255 0.3428 None gnomAD-4.0.0 1.43147E-05
21549 81 T/P 168 None 0.3871 None gnomAD-4.0.0 2.40064E-06
21550 82 Q/H 169 None 0.2267 None gnomAD-4.0.0 1.61222E-06
21552 84 I/T 172 None 0.0831 None gnomAD-4.0.0 1.6134E-06
21552 84 I/V 172 rs201247592 0.0831 None gnomAD-2.1.1 1.42112E-04
21552 84 I/V 172 rs201247592 0.0831 None gnomAD-3.1.2 3.35275E-04
21552 84 I/V 172 rs201247592 0.0831 None 1000 genomes 1.99681E-04
21552 84 I/V 172 rs201247592 0.0831 None gnomAD-4.0.0 5.10788E-05
21554 86 V/G 174 None 0.1184 None gnomAD-4.0.0 3.22615E-06
21555 87 V/A 175 rs756320940 0.3054 None gnomAD-2.1.1 4.11E-06
21555 87 V/A 175 rs756320940 0.3054 None gnomAD-4.0.0 1.37635E-06
21555 87 V/L 175 None 0.3054 None gnomAD-4.0.0 1.61303E-06
21556 88 V/A 177 None 0.1372 None gnomAD-4.0.0 1.37696E-06