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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
4981 1 P/S 1 rs1305431573 0.1303 None gnomAD-3.1.2 6.57E-06
4981 1 P/S 1 rs1305431573 0.1303 None gnomAD-4.0.0 6.57246E-06
4982 2 S/T 2 rs775173260 0.2508 None gnomAD-3.1.2 6.57E-06
4982 2 S/T 2 rs775173260 0.2508 None gnomAD-4.0.0 6.5697E-06
4984 4 V/M 4 rs903648091 0.5420 None gnomAD-4.0.0 1.397E-05
4985 5 K/T 5 rs750177841 0.3204 None gnomAD-2.1.1 5.67E-05
4985 5 K/T 5 rs750177841 0.3204 None gnomAD-3.1.2 1.31E-05
4985 5 K/T 5 rs750177841 0.3204 None gnomAD-4.0.0 2.45542E-05
4986 6 K/N 7 None 0.2930 None gnomAD-4.0.0 6.94833E-07
4988 8 D/E 9 None 0.5472 None gnomAD-4.0.0 1.63507E-06
4988 8 D/G 9 rs1029051488 0.5472 None gnomAD-4.0.0 6.24316E-06
4989 9 P/L 11 rs1560844298 0.6985 None gnomAD-4.0.0 3.26883E-06
4989 9 P/S 11 rs80003323 0.6985 None gnomAD-2.1.1 4.47E-06
4989 9 P/S 11 rs80003323 0.6985 None gnomAD-3.1.2 6.57E-06
4989 9 P/S 11 rs80003323 0.6985 None gnomAD-4.0.0 6.26231E-06
4989 9 P/T 11 rs80003323 0.6985 None gnomAD-2.1.1 4.47E-06
4989 9 P/T 11 rs80003323 0.6985 None gnomAD-3.1.2 1.31E-05
4989 9 P/T 11 rs80003323 0.6985 None 1000 genomes 1.99681E-04
4989 9 P/T 11 rs80003323 0.6985 None gnomAD-4.0.0 1.00189E-05
4990 10 S/P 12 None 0.4757 None gnomAD-4.0.0 1.20032E-06
4991 11 Y/C 13 None 0.3236 None gnomAD-4.0.0 1.37791E-06
4991 11 Y/F 13 rs1422915877 0.3236 None gnomAD-2.1.1 4.36E-06
4991 11 Y/F 13 rs1422915877 0.3236 None gnomAD-4.0.0 1.37791E-06
4991 11 Y/N 13 None 0.3236 None gnomAD-4.0.0 2.75639E-06
4991 11 Y/S 13 None 0.3236 None gnomAD-4.0.0 6.88954E-07
4993 13 M/I 16 None 0.1844 None gnomAD-4.0.0 1.60967E-06
4993 13 M/V 16 None 0.1844 None gnomAD-4.0.0 1.61024E-06
4994 14 L/V 18 None 0.6532 None gnomAD-4.0.0 1.60867E-06
4995 15 P/R 23 rs72648927 0.4622 None gnomAD-2.1.1 8.09052E-03
4995 15 P/R 23 rs72648927 0.4622 None gnomAD-3.1.2 7.18952E-03
4995 15 P/R 23 rs72648927 0.4622 None 1000 genomes 4.39297E-03
4995 15 P/R 23 rs72648927 0.4622 None gnomAD-4.0.0 8.84273E-03
4995 15 P/S 23 rs776578141 0.4622 None gnomAD-2.1.1 1.27E-05
4995 15 P/S 23 rs776578141 0.4622 None gnomAD-3.1.2 6.57E-06
4995 15 P/S 23 rs776578141 0.4622 None gnomAD-4.0.0 2.23889E-05
4996 16 G/D 24 None 0.3672 None gnomAD-4.0.0 1.60299E-06
4997 17 E/D 25 None 0.3115 None gnomAD-4.0.0 1.60003E-06
4997 17 E/G 25 rs775749900 0.3115 None gnomAD-2.1.1 2.08E-05
4997 17 E/G 25 rs775749900 0.3115 None gnomAD-3.1.2 6.57E-06
4997 17 E/G 25 rs775749900 0.3115 None gnomAD-4.0.0 1.05588E-05
5000 20 R/C 29 rs369933152 0.4579 None gnomAD-2.1.1 1.13302E-04
5000 20 R/C 29 rs369933152 0.4579 None gnomAD-3.1.2 3.15424E-04
5000 20 R/C 29 rs369933152 0.4579 None 1000 genomes 1.99681E-04
5000 20 R/C 29 rs369933152 0.4579 None gnomAD-4.0.0 7.13735E-05
5000 20 R/G 29 None 0.4579 None gnomAD-4.0.0 6.85424E-07
5000 20 R/H 29 rs377062348 0.4579 None gnomAD-2.1.1 2.19E-05
5000 20 R/H 29 rs377062348 0.4579 None gnomAD-3.1.2 5.26E-05
5000 20 R/H 29 rs377062348 0.4579 None gnomAD-4.0.0 2.42061E-05
5000 20 R/P 29 None 0.4579 None gnomAD-4.0.0 1.37079E-06
5001 21 L/F 30 None 0.1371 None gnomAD-4.0.0 4.78956E-06
5001 21 L/V 30 rs774593495 0.1371 None gnomAD-2.1.1 4.11E-06
5002 22 H/N 31 None 0.5509 None gnomAD-4.0.0 1.59585E-06
5002 22 H/P 31 None 0.5509 None gnomAD-4.0.0 1.59534E-06
5002 22 H/Y 31 None 0.5509 None gnomAD-4.0.0 1.59585E-06
5003 23 C/W 33 None 0.0917 None gnomAD-4.0.0 1.36977E-06
5003 23 C/Y 33 rs374015538 0.0917 None gnomAD-2.1.1 2.04E-05
5003 23 C/Y 33 rs374015538 0.0917 None gnomAD-3.1.2 6.57E-06
5003 23 C/Y 33 rs374015538 0.0917 None gnomAD-4.0.0 6.41802E-06
5004 24 K/E 34 None 0.3204 None gnomAD-4.0.0 1.59415E-06
5005 25 L/V 35 rs1449279284 0.1416 None gnomAD-2.1.1 4.07E-06
5005 25 L/V 35 rs1449279284 0.1416 None gnomAD-4.0.0 1.3694E-06
5006 26 K/R 38 None 0.5225 None gnomAD-4.0.0 1.36915E-06
5007 27 G/C 40 None 0.2632 None gnomAD-4.0.0 1.59307E-06
5007 27 G/S 40 None 0.2632 None gnomAD-4.0.0 1.59307E-06
5007 27 G/V 40 None 0.2632 None gnomAD-4.0.0 2.73816E-06
5008 28 S/L 41 None 0.2095 None gnomAD-4.0.0 2.40064E-06
5012 32 Q/H 45 None 0.7484 None gnomAD-4.0.0 1.5922E-06
5014 34 T/A 47 rs143093473 0.3067 None gnomAD-2.1.1 6.05E-05
5014 34 T/A 47 rs143093473 0.3067 None gnomAD-3.1.2 6.57E-06
5014 34 T/A 47 rs143093473 0.3067 None gnomAD-4.0.0 2.35528E-05
5014 34 T/I 47 None 0.3067 None gnomAD-4.0.0 1.59202E-06
5014 34 T/S 47 rs143093473 0.3067 None gnomAD-2.1.1 9.67E-05
5014 34 T/S 47 rs143093473 0.3067 None gnomAD-3.1.2 3.29E-05
5014 34 T/S 47 rs143093473 0.3067 None 1000 genomes 5.99042E-04
5014 34 T/S 47 rs143093473 0.3067 None gnomAD-4.0.0 2.41708E-05
5016 36 F/L 49 rs530321856 0.2026 None gnomAD-2.1.1 4.03E-06
5016 36 F/L 49 rs530321856 0.2026 None gnomAD-3.1.2 6.57E-06
5016 36 F/L 49 rs530321856 0.2026 None 1000 genomes 1.99681E-04
5016 36 F/L 49 rs530321856 0.2026 None gnomAD-4.0.0 3.04433E-06
5018 38 N/S 51 None 0.5310 None gnomAD-4.0.0 3.60097E-06
5019 39 N/S 52 None 0.9808 None gnomAD-4.0.0 4.78995E-06
5021 41 E/D 56 rs727503651 0.5589 None gnomAD-2.1.1 2.82E-05
5021 41 E/D 56 rs727503651 0.5589 None gnomAD-3.1.2 1.31E-05
5021 41 E/D 56 rs727503651 0.5589 None gnomAD-4.0.0 1.40938E-05
5021 41 E/K 56 rs779917005 0.5589 None gnomAD-2.1.1 4.03E-06
5022 42 L/F 58 rs931153562 0.2306 None gnomAD-3.1.2 6.57E-06
5022 42 L/F 58 rs931153562 0.2306 None gnomAD-4.0.0 6.57212E-06
5022 42 L/V 58 rs931153562 0.2306 None gnomAD-2.1.1 4.03E-06
5022 42 L/V 58 rs931153562 0.2306 None gnomAD-4.0.0 1.5916E-06
5023 43 S/N 59 rs878907513 0.7667 None gnomAD-2.1.1 8.05E-06
5023 43 S/N 59 rs878907513 0.7667 None gnomAD-4.0.0 1.98436E-05
5024 44 E/A 70 None 0.6183 None gnomAD-4.0.0 1.20032E-06
5024 44 E/G 70 rs2081168482 0.6183 None gnomAD-4.0.0 1.20032E-06
5024 44 E/K 70 rs750031855 0.6183 None gnomAD-2.1.1 7.15E-05
5024 44 E/K 70 rs750031855 0.6183 None gnomAD-3.1.2 2.63E-05
5024 44 E/K 70 rs750031855 0.6183 None gnomAD-4.0.0 1.92116E-05
5026 46 N/K 102 None 1.0761 None gnomAD-4.0.0 1.20032E-06
5027 47 T/I 115 rs778591734 0.4131 None gnomAD-2.1.1 1.61E-05
5027 47 T/K 115 None 0.4131 None gnomAD-4.0.0 1.36849E-06
5029 49 R/L 122 rs200792058 0.5460 None gnomAD-3.1.2 6.57E-06
5029 49 R/L 122 rs200792058 0.5460 None gnomAD-4.0.0 6.57333E-06
5029 49 R/Q 122 rs200792058 0.5460 None gnomAD-2.1.1 1.75025E-04
5029 49 R/Q 122 rs200792058 0.5460 None gnomAD-3.1.2 6.57E-05
5029 49 R/Q 122 rs200792058 0.5460 None gnomAD-4.0.0 1.96444E-04
5030 50 M/I 123 rs753772585 0.2274 None gnomAD-3.1.2 1.97E-05
5030 50 M/I 123 rs753772585 0.2274 None gnomAD-4.0.0 8.1197E-06
5031 51 Y/C 125 rs1239777211 0.4546 None gnomAD-2.1.1 4.02E-06
5031 51 Y/C 125 rs1239777211 0.4546 None gnomAD-4.0.0 1.59134E-06
5031 51 Y/D 125 rs879023034 0.4546 None gnomAD-2.1.1 1.07E-05
5031 51 Y/D 125 rs879023034 0.4546 None gnomAD-3.1.2 1.97E-05
5031 51 Y/D 125 rs879023034 0.4546 None gnomAD-4.0.0 1.2394E-05
5032 52 F/C 127 None 0.3364 None gnomAD-4.0.0 1.59135E-06
5032 52 F/L 127 None 0.3364 None gnomAD-4.0.0 1.20032E-06
5033 53 V/I 130 rs1296327328 0.6187 None gnomAD-4.0.0 1.20032E-06
5034 54 N/H 131 rs1211030254 0.8422 None gnomAD-4.0.0 1.27304E-05
5034 54 N/S 131 rs764009823 0.8422 None gnomAD-2.1.1 1.61E-05
5034 54 N/S 131 rs764009823 0.8422 None gnomAD-3.1.2 6.57E-06
5034 54 N/S 131 rs764009823 0.8422 None gnomAD-4.0.0 6.8166E-06
5035 55 S/C 134 None 0.3326 None gnomAD-4.0.0 1.20032E-06
5035 55 S/F 134 rs2081161682 0.3326 None gnomAD-3.1.2 6.57E-06
5035 55 S/F 134 rs2081161682 0.3326 None gnomAD-4.0.0 6.57229E-06
5035 55 S/T 134 None 0.3326 None gnomAD-4.0.0 1.20032E-06
5036 56 E/G 135 None 0.3337 None gnomAD-4.0.0 1.59127E-06
5036 56 E/K 135 rs1353528713 0.3337 None gnomAD-2.1.1 4.02E-06
5036 56 E/K 135 rs1353528713 0.3337 None gnomAD-4.0.0 1.59131E-06
5037 57 A/V 136 rs2081160946 0.1060 None gnomAD-4.0.0 1.32035E-05
5038 58 I/T 137 rs949151920 0.1795 None gnomAD-4.0.0 1.5913E-06
5038 58 I/V 137 rs2081160150 0.1795 None gnomAD-4.0.0 1.20032E-06
5039 59 L/F 138 rs917573806 0.0840 None gnomAD-4.0.0 1.5913E-06
5040 60 D/G 139 rs1315700657 0.2528 None gnomAD-4.0.0 1.20032E-06
5040 60 D/H 139 None 0.2528 None gnomAD-4.0.0 1.36843E-06
5040 60 D/Y 139 None 0.2528 None gnomAD-4.0.0 1.36843E-06
5041 61 I/S 140 rs752780850 0.1545 None gnomAD-2.1.1 8.04E-06
5041 61 I/S 140 rs752780850 0.1545 None gnomAD-3.1.2 6.57E-06
5041 61 I/S 140 rs752780850 0.1545 None gnomAD-4.0.0 8.96728E-06
5041 61 I/V 140 rs760814989 0.1545 None gnomAD-2.1.1 1.43E-05
5041 61 I/V 140 rs760814989 0.1545 None gnomAD-3.1.2 6.57E-06
5041 61 I/V 140 rs760814989 0.1545 None gnomAD-4.0.0 4.95745E-06
5042 62 T/M 141 rs1060500462 0.4429 None gnomAD-3.1.2 1.97E-05
5042 62 T/M 141 rs1060500462 0.4429 None gnomAD-4.0.0 3.09861E-06
5042 62 T/R 141 None 0.4429 None gnomAD-4.0.0 6.84223E-07
5043 63 D/G 143 rs1578215701 0.7213 None gnomAD-4.0.0 6.84213E-07
5043 63 D/V 143 None 0.7213 None gnomAD-4.0.0 6.84213E-07
5043 63 D/Y 143 rs1345038643 0.7213 None gnomAD-2.1.1 3.18E-05
5044 64 V/L 144 None 0.1453 None gnomAD-4.0.0 1.20032E-06
5046 66 V/F 146 rs1395287554 0.5702 None gnomAD-3.1.2 6.57E-06
5046 66 V/F 146 rs1395287554 0.5702 None gnomAD-4.0.0 1.23941E-06
5046 66 V/I 146 rs1395287554 0.5702 None gnomAD-2.1.1 4.02E-06
5046 66 V/I 146 rs1395287554 0.5702 None gnomAD-4.0.0 1.36848E-06
5048 68 D/A 149 None 0.2417 None gnomAD-4.0.0 3.18261E-06
5048 68 D/E 149 rs371699709 0.2417 None gnomAD-2.1.1 8.04E-06
5048 68 D/E 149 rs371699709 0.2417 None gnomAD-3.1.2 6.57E-06
5048 68 D/E 149 rs371699709 0.2417 None gnomAD-4.0.0 9.29558E-06
5049 69 S/G 151 None 0.2549 None gnomAD-4.0.0 1.5913E-06
5049 69 S/N 151 rs1314741857 0.2549 None gnomAD-2.1.1 4.02E-06
5049 69 S/N 151 rs1314741857 0.2549 None gnomAD-4.0.0 4.77432E-06
5050 70 G/E 152 None 0.1786 None gnomAD-4.0.0 6.84292E-07
5050 70 G/R 152 None 0.1786 None gnomAD-4.0.0 6.84219E-07
5050 70 G/V 152 None 0.1786 None gnomAD-4.0.0 6.84292E-07
5050 70 G/W 152 rs908686601 0.1786 None gnomAD-3.1.2 5.91E-05
5050 70 G/W 152 rs908686601 0.1786 None gnomAD-4.0.0 1.05346E-05
5051 71 S/C 153 rs2081151606 0.2992 None gnomAD-4.0.0 1.20032E-06
5052 72 Y/C 154 rs950432591 0.1531 None gnomAD-3.1.2 6.57E-06
5052 72 Y/C 154 rs950432591 0.1531 None gnomAD-4.0.0 6.57022E-06
5052 72 Y/F 154 rs950432591 0.1531 None gnomAD-4.0.0 1.36864E-06
5053 73 S/L 155 None 0.2235 None gnomAD-4.0.0 1.20032E-06
5053 73 S/P 155 None 0.2235 None gnomAD-4.0.0 1.59179E-06
5054 74 C/R 156 None 0.0796 CFTD
Literature None
5054 74 C/R 156 None 0.0796 None gnomAD-4.0.0 1.20032E-06
5054 74 C/Y 156 None 0.0796 None gnomAD-4.0.0 1.20032E-06
5055 75 E/D 157 None 0.3927 None gnomAD-4.0.0 1.59185E-06
5055 75 E/G 157 rs1185775947 0.3927 None gnomAD-3.1.2 6.57E-06
5055 75 E/G 157 rs1185775947 0.3927 None gnomAD-4.0.0 6.57004E-06
5055 75 E/K 157 None 0.3927 None gnomAD-4.0.0 2.40064E-06
5056 76 A/S 158 rs763353350 0.1036 None gnomAD-4.0.0 2.73751E-06
5056 76 A/T 158 rs763353350 0.1036 None gnomAD-2.1.1 4.02E-06
5056 76 A/T 158 rs763353350 0.1036 None gnomAD-4.0.0 6.84377E-07
5057 77 V/L 159 None 0.3227 None gnomAD-4.0.0 1.5924E-06
5058 78 N/S 161 rs773648136 0.1377 None gnomAD-2.1.1 8.04E-06
5058 78 N/S 161 rs773648136 0.1377 None gnomAD-4.0.0 3.18528E-06
5059 79 D/E 162 rs74607159 0.5335 None gnomAD-3.1.2 6.57E-06
5059 79 D/E 162 rs74607159 0.5335 None gnomAD-4.0.0 6.57142E-06
5059 79 D/G 162 rs1422502789 0.5335 None gnomAD-2.1.1 4.02E-06
5059 79 D/N 162 rs770418360 0.5335 None gnomAD-2.1.1 7.24E-05
5059 79 D/N 162 rs770418360 0.5335 None gnomAD-3.1.2 1.97E-05
5059 79 D/N 162 rs770418360 0.5335 None gnomAD-4.0.0 2.94992E-05
5060 80 V/I 163 rs72648929 0.2656 None gnomAD-2.1.1 2.50423E-03
5060 80 V/I 163 rs72648929 0.2656 None gnomAD-3.1.2 9.66101E-04
5060 80 V/I 163 rs72648929 0.2656 None 1000 genomes 4.39297E-03
5060 80 V/I 163 rs72648929 0.2656 None gnomAD-4.0.0 9.22373E-04
5060 80 V/L 163 rs72648929 0.2656 None gnomAD-2.1.1 3.20085E-03
5060 80 V/L 163 rs72648929 0.2656 None gnomAD-3.1.2 2.35282E-03
5060 80 V/L 163 rs72648929 0.2656 None 1000 genomes 3.39457E-03
5060 80 V/L 163 rs72648929 0.2656 None gnomAD-4.0.0 3.17871E-03
5061 81 G/C 164 rs1441268700 0.2430 None gnomAD-3.1.2 6.57E-06
5061 81 G/C 164 rs1441268700 0.2430 None gnomAD-4.0.0 1.85989E-06
5061 81 G/S 164 rs1441268700 0.2430 None gnomAD-2.1.1 6.37E-05
5061 81 G/S 164 rs1441268700 0.2430 None gnomAD-3.1.2 3.29E-05
5061 81 G/S 164 rs1441268700 0.2430 None gnomAD-4.0.0 8.6795E-06
5062 82 S/G 165 rs778610579 0.4646 None gnomAD-2.1.1 2.5E-05
5062 82 S/G 165 rs778610579 0.4646 None gnomAD-4.0.0 1.11529E-05
5062 82 S/I 165 rs371687650 0.4646 None gnomAD-2.1.1 4.03E-06
5062 82 S/I 165 rs371687650 0.4646 None gnomAD-3.1.2 2.63E-05
5062 82 S/I 165 rs371687650 0.4646 None gnomAD-4.0.0 6.20027E-06
5062 82 S/N 165 rs371687650 0.4646 None gnomAD-2.1.1 7.86E-05
5062 82 S/N 165 rs371687650 0.4646 None gnomAD-3.1.2 3.29E-05
5062 82 S/N 165 rs371687650 0.4646 None gnomAD-4.0.0 3.03813E-05
5064 84 S/N 168 None 0.4306 None gnomAD-4.0.0 3.60097E-06
5066 86 S/G 171 rs756793304 0.5382 None gnomAD-2.1.1 1.79E-05
5066 86 S/G 171 rs756793304 0.5382 None gnomAD-3.1.2 2.63E-05
5066 86 S/G 171 rs756793304 0.5382 None gnomAD-4.0.0 4.96147E-05
5067 87 T/I 172 rs1560840708 0.1087 None gnomAD-2.1.1 4.03E-06
5067 87 T/I 172 rs1560840708 0.1087 None gnomAD-3.1.2 6.57E-06
5067 87 T/I 172 rs1560840708 0.1087 None gnomAD-4.0.0 1.11672E-05
5068 88 E/G 173 None 0.2483 None gnomAD-4.0.0 1.20032E-06
5070 90 V/L 175 None 0.3357 None gnomAD-4.0.0 1.20032E-06
5071 91 I/T 177 None 0.1066 None gnomAD-4.0.0 2.75503E-06
5071 91 I/V 177 rs777480345 0.1066 None gnomAD-2.1.1 1.22E-05
5071 91 I/V 177 rs777480345 0.1066 None gnomAD-3.1.2 6.57E-06
5071 91 I/V 177 rs777480345 0.1066 None gnomAD-4.0.0 1.2468E-05