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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2445 1 V/G 1 None 0.1764 None gnomAD-4.0.0 3.60349E-06
2446 2 D/N 2 None 0.5670 None gnomAD-4.0.0 1.20032E-06
2447 3 V/M 3 rs779064962 0.2325 None gnomAD-2.1.1 2.84E-05
2447 3 V/M 3 rs779064962 0.2325 None gnomAD-3.1.2 1.0518E-04
2447 3 V/M 3 rs779064962 0.2325 None gnomAD-4.0.0 4.02757E-05
2448 4 I/V 4 rs143616825 0.4086 None gnomAD-2.1.1 7.98E-06
2448 4 I/V 4 rs143616825 0.4086 None gnomAD-3.1.2 2.63E-05
2448 4 I/V 4 rs143616825 0.4086 None 1000 genomes 3.99361E-04
2448 4 I/V 4 rs143616825 0.4086 None gnomAD-4.0.0 1.28041E-05
2450 6 P/R 7 rs749427768 0.4102 None gnomAD-2.1.1 3.99E-06
2450 6 P/R 7 rs749427768 0.4102 None gnomAD-4.0.0 1.59072E-06
2451 7 L/P 8 rs2091856215 0.1354 None gnomAD-3.1.2 6.57E-06
2451 7 L/P 8 rs2091856215 0.1354 None gnomAD-4.0.0 6.57091E-06
2451 7 L/V 8 rs1334983406 0.1354 None gnomAD-2.1.1 1.2E-05
2451 7 L/V 8 rs1334983406 0.1354 None gnomAD-4.0.0 4.77219E-06
2452 8 K/E 9 None 0.7549 None gnomAD-4.0.0 1.20032E-06
2453 9 D/A 11 None 0.4849 None gnomAD-4.0.0 1.20032E-06
2453 9 D/E 11 rs1002418895 0.4849 None gnomAD-2.1.1 3.99E-06
2453 9 D/E 11 rs1002418895 0.4849 None gnomAD-4.0.0 1.59072E-06
2454 10 V/D 13 rs2091855424 0.2492 None gnomAD-4.0.0 1.59073E-06
2455 11 N/D 14 None 0.7472 None gnomAD-4.0.0 1.36822E-06
2455 11 N/H 14 rs1561255734 0.7472 None gnomAD-2.1.1 3.99E-06
2455 11 N/H 14 rs1561255734 0.7472 None gnomAD-4.0.0 6.84111E-07
2455 11 N/S 14 rs2091854692 0.7472 None gnomAD-3.1.2 1.31E-05
2455 11 N/S 14 rs2091854692 0.7472 None gnomAD-4.0.0 3.84202E-06
2457 13 I/T 18 None 0.6222 None gnomAD-4.0.0 1.20032E-06
2459 15 G/S 24 rs374967916 0.3886 None gnomAD-2.1.1 2.13E-05
2459 15 G/S 24 rs374967916 0.3886 None gnomAD-3.1.2 5.91E-05
2459 15 G/S 24 rs374967916 0.3886 None gnomAD-4.0.0 4.08941E-05
2460 16 T/A 25 None 0.3198 None gnomAD-4.0.0 1.59071E-06
2462 18 A/P 28 None 0.1422 None gnomAD-4.0.0 1.36822E-06
2462 18 A/T 28 None 0.1422 None gnomAD-4.0.0 6.84112E-07
2462 18 A/V 28 None 0.1422 None gnomAD-4.0.0 1.59074E-06
2463 19 V/A 29 None 0.3869 None gnomAD-4.0.0 1.59072E-06
2463 19 V/E 29 rs755393409 0.3869 None gnomAD-2.1.1 3.99E-06
2463 19 V/E 29 rs755393409 0.3869 None gnomAD-4.0.0 1.59072E-06
2463 19 V/M 29 None 0.3869 None gnomAD-4.0.0 1.59075E-06
2464 20 L/H 30 None 0.1345 None gnomAD-4.0.0 2.40064E-06
2465 21 E/D 31 rs1469271059 0.3355 None gnomAD-2.1.1 3.99E-06
2465 21 E/K 31 rs941805455 0.3355 None gnomAD-3.1.2 6.57E-06
2465 21 E/K 31 rs941805455 0.3355 None gnomAD-4.0.0 5.12291E-06
2466 22 C/G 33 None 0.1080 None gnomAD-4.0.0 6.84111E-07
2466 22 C/S 33 None 0.1080 None gnomAD-4.0.0 6.84111E-07
2466 22 C/Y 33 None 0.1080 None gnomAD-4.0.0 1.36822E-06
2467 23 K/E 34 rs1362423521 0.3591 None gnomAD-2.1.1 1.42E-05
2467 23 K/E 34 rs1362423521 0.3591 None gnomAD-3.1.2 6.57E-06
2467 23 K/E 34 rs1362423521 0.3591 None gnomAD-4.0.0 6.19603E-06
2467 23 K/N 34 rs757495201 0.3591 None gnomAD-2.1.1 3.19E-05
2467 23 K/N 34 rs757495201 0.3591 None gnomAD-3.1.2 6.57E-06
2467 23 K/N 34 rs757495201 0.3591 None gnomAD-4.0.0 1.85889E-06
2467 23 K/R 34 rs1184349328 0.3591 None gnomAD-2.1.1 3.99E-06
2467 23 K/R 34 rs1184349328 0.3591 None gnomAD-4.0.0 1.59074E-06
2468 24 V/A 35 rs886055300 0.1350 None gnomAD-4.0.0 3.18148E-06
2468 24 V/L 35 rs1420278166 0.1350 None gnomAD-2.1.1 3.99E-06
2468 24 V/L 35 rs1420278166 0.1350 None gnomAD-4.0.0 1.36822E-06
2468 24 V/M 35 rs1420278166 0.1350 None gnomAD-4.0.0 6.84112E-07
2469 25 S/A 38 None 0.2831 None gnomAD-4.0.0 1.20032E-06
2469 25 S/L 38 rs2091848374 0.2831 None gnomAD-4.0.0 1.20032E-06
2469 25 S/P 38 rs1483612704 0.2831 None gnomAD-3.1.2 6.57E-06
2469 25 S/P 38 rs1483612704 0.2831 None gnomAD-4.0.0 6.08959E-06
2470 26 V/A 40 rs1257401940 0.2570 None gnomAD-2.1.1 3.99E-06
2470 26 V/A 40 rs1257401940 0.2570 None gnomAD-4.0.0 1.59071E-06
2470 26 V/F 40 rs1228257559 0.2570 None gnomAD-4.0.0 3.42054E-06
2470 26 V/I 40 rs1228257559 0.2570 None gnomAD-4.0.0 5.47287E-06
2471 27 P/S 41 rs1208886109 0.4072 None gnomAD-4.0.0 1.59073E-06
2472 28 D/N 42 rs1486709515 0.6943 None gnomAD-2.1.1 3.99E-06
2472 28 D/N 42 rs1486709515 0.6943 None gnomAD-4.0.0 3.18146E-06
2473 29 V/L 43 None 0.2173 None gnomAD-4.0.0 1.59073E-06
2473 29 V/M 43 rs1204779013 0.2173 None gnomAD-2.1.1 3.99E-06
2473 29 V/M 43 rs1204779013 0.2173 None gnomAD-4.0.0 4.77218E-06
2474 30 T/S 44 rs750891001 0.8214 None gnomAD-2.1.1 3.99E-06
2476 32 V/I 46 rs763541715 0.2975 None gnomAD-2.1.1 7.97E-06
2476 32 V/I 46 rs763541715 0.2975 None gnomAD-4.0.0 3.18143E-06
2479 35 Y/D 49 rs775065622 0.1947 None gnomAD-2.1.1 7.97E-06
2479 35 Y/D 49 rs775065622 0.1947 None gnomAD-3.1.2 1.31E-05
2479 35 Y/D 49 rs775065622 0.1947 None gnomAD-4.0.0 3.71773E-06
2479 35 Y/H 49 rs775065622 0.1947 None gnomAD-2.1.1 1.2E-05
2479 35 Y/H 49 rs775065622 0.1947 None gnomAD-4.0.0 2.05231E-06
2483 39 E/K 55 None 0.8069 None gnomAD-4.0.0 6.84109E-07
2485 41 I/M 58 rs771849393 0.2086 None gnomAD-2.1.1 7.97E-06
2485 41 I/M 58 rs771849393 0.2086 None gnomAD-4.0.0 4.77205E-06
2485 41 I/V 58 None 0.2086 None gnomAD-4.0.0 2.73641E-06
2487 43 P/S 70 rs759448340 0.5521 None gnomAD-4.0.0 1.59072E-06
2487 43 P/T 70 rs759448340 0.5521 None gnomAD-2.1.1 1.42E-05
2487 43 P/T 70 rs759448340 0.5521 None gnomAD-3.1.2 3.29E-05
2487 43 P/T 70 rs759448340 0.5521 None gnomAD-4.0.0 1.15275E-05
2488 44 D/H 73 rs928988828 0.4051 None gnomAD-3.1.2 6.57E-06
2488 44 D/H 73 rs928988828 0.4051 None gnomAD-4.0.0 2.02985E-06
2488 44 D/V 73 None 0.4051 None gnomAD-4.0.0 1.20032E-06
2489 45 D/E 111 rs2091842638 1.0719 None gnomAD-3.1.2 6.57E-06
2489 45 D/E 111 rs2091842638 1.0719 None gnomAD-4.0.0 3.84234E-06
2489 45 D/N 111 None 1.0719 None gnomAD-4.0.0 6.84111E-07
2490 46 R/C 115 rs200131545 0.2455 None gnomAD-2.1.1 7.97E-06
2490 46 R/C 115 rs200131545 0.2455 None gnomAD-3.1.2 6.58E-06
2490 46 R/C 115 rs200131545 0.2455 None gnomAD-4.0.0 9.91432E-06
2490 46 R/H 115 rs148920986 0.2455 None gnomAD-2.1.1 2.83E-05
2490 46 R/H 115 rs148920986 0.2455 None gnomAD-3.1.2 3.94E-05
2490 46 R/H 115 rs148920986 0.2455 None gnomAD-4.0.0 1.7348E-05
2490 46 R/L 115 rs148920986 0.2455 None gnomAD-2.1.1 7.97E-06
2490 46 R/L 115 rs148920986 0.2455 None gnomAD-3.1.2 1.97E-05
2490 46 R/L 115 rs148920986 0.2455 None 1000 genomes 1.99681E-04
2490 46 R/L 115 rs148920986 0.2455 None gnomAD-4.0.0 4.95657E-06
2490 46 R/P 115 None 0.2455 None gnomAD-4.0.0 2.05233E-06
2491 47 V/I 121 rs976008348 0.1685 None gnomAD-3.1.2 6.57E-06
2491 47 V/I 121 rs976008348 0.1685 None gnomAD-4.0.0 6.57315E-06
2492 48 Q/P 122 None 0.4235 None gnomAD-4.0.0 1.59067E-06
2493 49 A/P 123 None 0.3791 None gnomAD-4.0.0 1.36821E-06
2493 49 A/S 123 None 0.3791 None gnomAD-4.0.0 1.36821E-06
2494 50 I/M 125 rs749215640 0.3637 None gnomAD-2.1.1 7.08E-06
2494 50 I/M 125 rs749215640 0.3637 None gnomAD-3.1.2 6.57E-06
2494 50 I/M 125 rs749215640 0.3637 None gnomAD-4.0.0 2.47845E-06
2494 50 I/V 125 None 0.3637 None gnomAD-4.0.0 9.54408E-06
2495 51 V/A 127 None 0.5183 None gnomAD-4.0.0 1.20032E-06
2495 51 V/M 127 rs777701974 0.5183 None gnomAD-2.1.1 4.38E-05
2495 51 V/M 127 rs777701974 0.5183 None gnomAD-4.0.0 1.43662E-05
2497 53 G/S 131 rs2091839294 0.2452 None gnomAD-4.0.0 1.59068E-06
2498 54 T/A 134 rs943280773 0.2535 None gnomAD-2.1.1 3.98E-06
2498 54 T/A 134 rs943280773 0.2535 None gnomAD-4.0.0 4.77205E-06
2498 54 T/I 134 rs1160698032 0.2535 None gnomAD-2.1.1 3.98E-06
2498 54 T/I 134 rs1160698032 0.2535 None gnomAD-4.0.0 6.84105E-07
2498 54 T/P 134 None 0.2535 None gnomAD-4.0.0 3.18137E-06
2498 54 T/S 134 None 0.2535 None gnomAD-4.0.0 1.36821E-06
2499 55 K/N 135 rs769774709 0.4093 None gnomAD-2.1.1 1.19E-05
2499 55 K/N 135 rs769774709 0.4093 None gnomAD-3.1.2 6.57E-06
2499 55 K/N 135 rs769774709 0.4093 None gnomAD-4.0.0 6.81563E-06
2500 56 Q/R 136 rs1417536595 0.1638 None gnomAD-2.1.1 3.98E-06
2500 56 Q/R 136 rs1417536595 0.1638 None gnomAD-4.0.0 1.59066E-06
2501 57 R/G 137 rs781459488 0.3485 None gnomAD-2.1.1 1.99E-05
2501 57 R/G 137 rs781459488 0.3485 None gnomAD-4.0.0 7.52513E-06
2501 57 R/L 137 rs369559000 0.3485 None gnomAD-2.1.1 3.98E-06
2501 57 R/L 137 rs369559000 0.3485 None gnomAD-4.0.0 6.84104E-07
2501 57 R/Q 137 rs369559000 0.3485 None gnomAD-2.1.1 3.59E-05
2501 57 R/Q 137 rs369559000 0.3485 None gnomAD-3.1.2 1.31E-05
2501 57 R/Q 137 rs369559000 0.3485 None gnomAD-4.0.0 4.15153E-05
2503 59 V/A 139 rs751964863 0.1724 None gnomAD-2.1.1 2.83E-05
2503 59 V/A 139 rs751964863 0.1724 None gnomAD-3.1.2 6.57E-06
2503 59 V/A 139 rs751964863 0.1724 None gnomAD-4.0.0 5.57653E-06
2503 59 V/D 139 None 0.1724 None gnomAD-4.0.0 6.841E-07
2503 59 V/L 139 rs1002285486 0.1724 None gnomAD-2.1.1 3.98E-06
2503 59 V/L 139 rs1002285486 0.1724 None gnomAD-4.0.0 1.59067E-06
2505 61 N/K 141 None 0.3652 None gnomAD-4.0.0 1.20032E-06
2505 61 N/Y 141 None 0.3652 None gnomAD-4.0.0 1.59068E-06
2506 62 R/G 143 rs780415493 0.7514 None gnomAD-3.1.2 6.57E-06
2506 62 R/G 143 rs780415493 0.7514 None gnomAD-4.0.0 1.11534E-05
2506 62 R/Q 143 rs758719859 0.7514 None gnomAD-2.1.1 2.83E-05
2506 62 R/Q 143 rs758719859 0.7514 None gnomAD-3.1.2 1.97E-05
2506 62 R/Q 143 rs758719859 0.7514 None gnomAD-4.0.0 1.05337E-05
2507 63 T/I 144 rs1280887940 0.1187 None gnomAD-4.0.0 1.20032E-06
2508 64 H/Q 145 None 0.5783 None gnomAD-4.0.0 4.78873E-06
2508 64 H/R 145 rs146970027 0.5783 None gnomAD-2.1.1 5.0636E-04
2508 64 H/R 145 rs146970027 0.5783 None gnomAD-3.1.2 3.81133E-04
2508 64 H/R 145 rs146970027 0.5783 None gnomAD-4.0.0 6.26464E-04
2508 64 H/Y 145 None 0.5783 None gnomAD-4.0.0 2.73642E-06
2509 65 A/V 146 None 0.4219 None gnomAD-4.0.0 1.59071E-06
2510 66 S/P 148 None 0.6159 None gnomAD-4.0.0 1.20032E-06
2512 68 E/K 151 rs116049561 0.5235 None gnomAD-2.1.1 2.12E-05
2512 68 E/K 151 rs116049561 0.5235 None gnomAD-3.1.2 1.97E-05
2512 68 E/K 151 rs116049561 0.5235 None 1000 genomes 1.99681E-04
2512 68 E/K 151 rs116049561 0.5235 None gnomAD-4.0.0 4.39899E-05
2513 69 G/R 152 rs150208472 0.2305 None gnomAD-2.1.1 3.98E-06
2513 69 G/R 152 rs150208472 0.2305 None gnomAD-3.1.2 6.57E-06
2513 69 G/R 152 rs150208472 0.2305 None 1000 genomes 3.99361E-04
2513 69 G/R 152 rs150208472 0.2305 None gnomAD-4.0.0 2.56153E-06
2514 70 P/A 153 rs375309644 0.5067 None gnomAD-3.1.2 6.57E-06
2514 70 P/A 153 rs375309644 0.5067 None gnomAD-4.0.0 6.57358E-06
2514 70 P/R 153 None 0.5067 None gnomAD-4.0.0 1.20032E-06
2514 70 P/T 153 rs375309644 0.5067 None gnomAD-2.1.1 3.98E-06
2514 70 P/T 153 rs375309644 0.5067 None gnomAD-3.1.2 6.57E-06
2514 70 P/T 153 rs375309644 0.5067 None gnomAD-4.0.0 2.56157E-06
2515 71 Y/H 154 None 0.1448 None gnomAD-4.0.0 2.40064E-06
2516 72 K/N 155 rs200973013 0.2296 None gnomAD-4.0.0 6.3629E-06
2518 74 I/K 157 None 0.2214 None gnomAD-4.0.0 6.84105E-07
2518 74 I/T 157 rs1319910280 0.2214 None gnomAD-2.1.1 3.98E-06
2518 74 I/T 157 rs1319910280 0.2214 None gnomAD-3.1.2 1.31E-05
2518 74 I/T 157 rs1319910280 0.2214 None gnomAD-4.0.0 2.47837E-06
2518 74 I/V 157 rs2091831608 0.2214 None gnomAD-4.0.0 2.40064E-06
2519 75 V/A 158 rs372361514 0.1589 None gnomAD-2.1.1 2.79E-05
2519 75 V/A 158 rs372361514 0.1589 None gnomAD-3.1.2 1.31E-05
2519 75 V/A 158 rs372361514 0.1589 None gnomAD-4.0.0 6.19608E-06
2519 75 V/G 158 rs372361514 0.1589 None gnomAD-4.0.0 6.84115E-07
2519 75 V/I 158 rs1435317877 0.1589 None gnomAD-2.1.1 3.98E-06
2520 76 G/R 164 None 0.2244 None gnomAD-4.0.0 1.36824E-06
2520 76 G/V 164 rs1173402678 0.2244 None gnomAD-3.1.2 1.97E-05
2520 76 G/V 164 rs1173402678 0.2244 None gnomAD-4.0.0 3.71777E-06
2522 78 V/A 166 rs1163155086 0.2894 None gnomAD-4.0.0 2.40064E-06
2523 79 E/G 168 None 0.4036 None gnomAD-4.0.0 1.59075E-06
2524 80 T/S 169 rs797046067 0.1560 None gnomAD-2.1.1 3.99E-06
2524 80 T/S 169 rs797046067 0.1560 None gnomAD-3.1.2 6.57E-06
2524 80 T/S 169 rs797046067 0.1560 None gnomAD-4.0.0 2.56143E-06
2525 81 N/D 171 rs935907056 0.4178 None gnomAD-2.1.1 1.99E-05
2525 81 N/D 171 rs935907056 0.4178 None gnomAD-4.0.0 4.10472E-06
2525 81 N/K 171 rs879021503 0.4178 None gnomAD-3.1.2 6.57E-06
2525 81 N/K 171 rs879021503 0.4178 None gnomAD-4.0.0 6.5703E-06
2527 83 N/D 173 rs773079394 0.4655 None gnomAD-2.1.1 7.09E-06
2527 83 N/D 173 rs773079394 0.4655 None gnomAD-3.1.2 6.57E-06
2527 83 N/D 173 rs773079394 0.4655 None gnomAD-4.0.0 2.56138E-06
2529 85 S/F 175 rs1474453684 0.2956 None gnomAD-2.1.1 7.97E-06
2529 85 S/F 175 rs1474453684 0.2956 None gnomAD-4.0.0 4.77266E-06