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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25601 1 T/K 1 rs374913031 0.4514 None gnomAD-2.1.1 4.03E-06
25601 1 T/K 1 rs374913031 0.4514 None gnomAD-3.1.2 6.58E-06
25601 1 T/K 1 rs374913031 0.4514 None gnomAD-4.0.0 3.71946E-06
25601 1 T/M 1 rs374913031 0.4514 None gnomAD-2.1.1 5.24E-05
25601 1 T/M 1 rs374913031 0.4514 None gnomAD-3.1.2 3.95E-05
25601 1 T/M 1 rs374913031 0.4514 None gnomAD-4.0.0 2.0457E-05
25602 2 P/S 2 rs1707254187 0.1115 None gnomAD-3.1.2 6.58E-06
25602 2 P/S 2 rs1707254187 0.1115 None gnomAD-4.0.0 2.03009E-06
25603 3 S/G 3 rs1446500939 0.1780 None gnomAD-3.1.2 6.57E-06
25603 3 S/G 3 rs1446500939 0.1780 None gnomAD-4.0.0 6.57341E-06
25604 4 P/L 4 rs1707251307 0.2962 None gnomAD-4.0.0 2.0538E-06
25605 5 P/A 5 rs1471696934 0.1430 None gnomAD-2.1.1 4.03E-06
25605 5 P/A 5 rs1471696934 0.1430 None gnomAD-4.0.0 1.59343E-06
25606 6 V/A 6 rs1343757002 0.2654 None gnomAD-3.1.2 1.31E-05
25606 6 V/A 6 rs1343757002 0.2654 None gnomAD-4.0.0 1.31465E-05
25606 6 V/I 6 rs794729501 0.2654 None gnomAD-2.1.1 4.03E-06
25606 6 V/I 6 rs794729501 0.2654 None gnomAD-3.1.2 1.97E-05
25606 6 V/I 6 rs794729501 0.2654 None gnomAD-4.0.0 7.44128E-06
25606 6 V/L 6 rs794729501 0.2654 None gnomAD-2.1.1 4.03E-06
25606 6 V/L 6 rs794729501 0.2654 None gnomAD-4.0.0 6.84686E-07
25608 8 L/P 9 None 0.2531 None gnomAD-4.0.0 1.59571E-06
25609 9 K/R 11 None 0.4223 None gnomAD-4.0.0 1.20032E-06
25611 11 T/R 13 None 0.4920 None gnomAD-4.0.0 6.85287E-07
25612 12 E/D 14 rs1707240113 0.4010 None gnomAD-4.0.0 1.20032E-06
25613 13 I/N 15 rs1553601096 0.3074 None gnomAD-4.0.0 1.20032E-06
25613 13 I/V 15 rs1707239042 0.3074 None gnomAD-3.1.2 6.57E-06
25613 13 I/V 15 rs1707239042 0.3074 None gnomAD-4.0.0 3.04496E-06
25615 15 K/R 17 rs1707237309 0.3038 None gnomAD-3.1.2 6.57E-06
25615 15 K/R 17 rs1707237309 0.3038 None gnomAD-4.0.0 2.57242E-06
25616 16 D/N 18 None 0.4353 None gnomAD-4.0.0 1.59988E-06
25617 17 S/L 19 None 0.1154 None gnomAD-4.0.0 1.20032E-06
25618 18 V/I 20 None 0.0944 None gnomAD-4.0.0 1.20032E-06
25620 20 I/V 22 rs773656560 0.1057 None gnomAD-2.1.1 2.04E-05
25620 20 I/V 22 rs773656560 0.1057 None gnomAD-3.1.2 1.97E-05
25620 20 I/V 22 rs773656560 0.1057 None gnomAD-4.0.0 2.86013E-05
25622 22 W/R 24 None 0.0929 None gnomAD-4.0.0 1.20032E-06
25623 23 E/G 25 None 0.3251 None gnomAD-4.0.0 1.61171E-06
25624 24 P/A 26 None 0.4262 None gnomAD-4.0.0 1.20032E-06
25624 24 P/L 26 None 0.4262 None gnomAD-4.0.0 1.61278E-06
25626 26 L/F 28 None 0.9725 None gnomAD-4.0.0 6.88414E-07
25628 28 D/V 30 None 0.3173 None gnomAD-4.0.0 1.61563E-06
25629 29 G/E 31 rs1707221923 0.2718 None gnomAD-4.0.0 1.37779E-06
25630 30 G/A 32 None 0.5628 None gnomAD-4.0.0 1.37852E-06
25630 30 G/R 32 None 0.5628 None gnomAD-4.0.0 1.20033E-06
25630 30 G/V 32 rs760386525 0.5628 None gnomAD-2.1.1 2.49E-05
25630 30 G/V 32 rs760386525 0.5628 None gnomAD-3.1.2 6.58E-06
25630 30 G/V 32 rs760386525 0.5628 None gnomAD-4.0.0 6.23888E-06
25631 31 S/C 33 None 0.1534 None gnomAD-4.0.0 2.75659E-06
25631 31 S/P 33 None 0.1534 None gnomAD-4.0.0 1.20032E-06
25632 32 K/T 34 rs984799615 0.9490 None gnomAD-3.1.2 1.31E-05
25632 32 K/T 34 rs984799615 0.9490 None gnomAD-4.0.0 4.05989E-06
25633 33 I/V 35 None 0.2020 None gnomAD-4.0.0 1.20032E-06
25635 35 N/K 37 None 0.1396 None gnomAD-4.0.0 6.88841E-07
25636 36 Y/C 38 rs2154167623 0.1040 None gnomAD-4.0.0 1.61512E-06
25636 36 Y/S 38 None 0.1040 None gnomAD-4.0.0 1.61512E-06
25637 37 I/V 39 rs1282968520 0.1816 None gnomAD-2.1.1 8.26E-06
25637 37 I/V 39 rs1282968520 0.1816 None gnomAD-3.1.2 6.57E-06
25637 37 I/V 39 rs1282968520 0.1816 None gnomAD-4.0.0 3.73926E-06
25638 38 V/A 40 rs771843047 0.0917 None gnomAD-2.1.1 4.11E-06
25638 38 V/A 40 rs771843047 0.0917 None gnomAD-4.0.0 1.37563E-06
25638 38 V/I 40 None 0.0917 None gnomAD-4.0.0 1.61223E-06
25639 39 E/Q 41 None 0.1436 None gnomAD-4.0.0 1.61054E-06
25641 41 R/C 43 rs549745098 0.1227 None gnomAD-2.1.1 2.05E-05
25641 41 R/C 43 rs549745098 0.1227 None gnomAD-3.1.2 1.32E-05
25641 41 R/C 43 rs549745098 0.1227 None 1000 genomes 1.99681E-04
25641 41 R/C 43 rs549745098 0.1227 None gnomAD-4.0.0 6.84366E-06
25641 41 R/H 43 rs369707906 0.1227 None gnomAD-2.1.1 6.31795E-04
25641 41 R/H 43 rs369707906 0.1227 None gnomAD-3.1.2 2.89348E-04
25641 41 R/H 43 rs369707906 0.1227 None 1000 genomes 1.99681E-03
25641 41 R/H 43 rs369707906 0.1227 None gnomAD-4.0.0 4.96591E-04
25641 41 R/L 43 None 0.1227 None gnomAD-4.0.0 6.87392E-07
25642 42 E/K 44 rs1455903337 0.2248 None gnomAD-4.0.0 1.6038E-06
25643 43 A/G 50 None 0.2515 None gnomAD-4.0.0 1.60351E-06
25643 43 A/T 50 None 0.2515 None gnomAD-4.0.0 1.60365E-06
25647 47 S/T 64 None 0.6023 None gnomAD-4.0.0 1.20032E-06
25648 48 Y/H 65 rs376340301 0.2287 None gnomAD-2.1.1 4.08E-06
25649 49 A/T 66 None 0.4153 None gnomAD-4.0.0 1.37102E-06
25650 50 A/D 67 rs886042780 0.4192 None gnomAD-2.1.1 4.05E-06
25650 50 A/D 67 rs886042780 0.4192 None gnomAD-3.1.2 6.58E-06
25650 50 A/D 67 rs886042780 0.4192 None gnomAD-4.0.0 8.68662E-06
25650 50 A/S 67 None 0.4192 None gnomAD-4.0.0 3.19194E-06
25651 51 V/A 68 rs370768049 0.2349 None gnomAD-2.1.1 1.62E-05
25651 51 V/A 68 rs370768049 0.2349 None gnomAD-3.1.2 1.31E-05
25651 51 V/A 68 rs370768049 0.2349 None gnomAD-4.0.0 7.44383E-06
25651 51 V/F 68 rs1219661897 0.2349 None gnomAD-2.1.1 3.19E-05
25651 51 V/F 68 rs1219661897 0.2349 None gnomAD-3.1.2 1.31E-05
25651 51 V/F 68 rs1219661897 0.2349 None gnomAD-4.0.0 8.06465E-06
25654 54 N/K 75 rs755800765 0.5983 None gnomAD-2.1.1 1.21E-05
25654 54 N/K 75 rs755800765 0.5983 None gnomAD-3.1.2 6.58E-06
25654 54 N/K 75 rs755800765 0.5983 None gnomAD-4.0.0 6.41134E-06
25655 55 C/R 77 rs752535050 0.0722 None gnomAD-2.1.1 2.02E-05
25655 55 C/R 77 rs752535050 0.0722 None gnomAD-4.0.0 8.21389E-06
25656 56 H/R 83 rs755172663 0.6105 None gnomAD-2.1.1 1.79E-05
25656 56 H/R 83 rs755172663 0.6105 None gnomAD-3.1.2 1.97E-05
25656 56 H/R 83 rs755172663 0.6105 None gnomAD-4.0.0 1.02555E-05
25656 56 H/Y 83 rs781451643 0.6105 None gnomAD-2.1.1 2.42E-05
25656 56 H/Y 83 rs781451643 0.6105 None gnomAD-3.1.2 1.32E-05
25656 56 H/Y 83 rs781451643 0.6105 None gnomAD-4.0.0 5.08354E-05
25657 57 K/Q 88 None 0.7318 None gnomAD-4.0.0 1.59245E-06
25657 57 K/T 88 None 0.7318 None gnomAD-4.0.0 2.40064E-06
25658 58 N/S 89 None 0.2114 None gnomAD-4.0.0 1.59233E-06
25662 62 I/N 93 None 0.0857 None gnomAD-4.0.0 6.84385E-07
25662 62 I/T 93 None 0.0857 None gnomAD-4.0.0 6.84385E-07
25662 62 I/V 93 None 0.0857 None gnomAD-4.0.0 1.59217E-06
25663 63 D/N 94 rs143186270 0.5066 None gnomAD-2.1.1 1.46594E-04
25663 63 D/N 94 rs143186270 0.5066 None gnomAD-3.1.2 3.41934E-04
25663 63 D/N 94 rs143186270 0.5066 None 1000 genomes 1.99681E-04
25663 63 D/N 94 rs143186270 0.5066 None gnomAD-4.0.0 1.35122E-04
25663 63 D/Y 94 rs143186270 0.5066 None gnomAD-2.1.1 1.21E-05
25663 63 D/Y 94 rs143186270 0.5066 None gnomAD-4.0.0 7.52829E-06
25664 64 Q/R 96 rs750836294 0.7615 None gnomAD-2.1.1 1.61E-05
25664 64 Q/R 96 rs750836294 0.7615 None gnomAD-3.1.2 6.57E-06
25664 64 Q/R 96 rs750836294 0.7615 None gnomAD-4.0.0 4.33896E-06
25665 65 L/F 97 None 0.1132 None gnomAD-4.0.0 1.20033E-06
25665 65 L/H 97 None 0.1132 None gnomAD-4.0.0 6.8435E-07
25665 65 L/R 97 rs188012906 0.1132 None gnomAD-2.1.1 8.05E-06
25665 65 L/R 97 rs188012906 0.1132 None gnomAD-3.1.2 1.97E-05
25665 65 L/R 97 rs188012906 0.1132 None 1000 genomes 3.99361E-04
25665 65 L/R 97 rs188012906 0.1132 None gnomAD-4.0.0 3.09897E-06
25667 67 E/G 99 rs777038781 0.3050 None gnomAD-2.1.1 4.03E-06
25667 67 E/G 99 rs777038781 0.3050 None gnomAD-4.0.0 3.18409E-06
25668 68 G/V 100 rs771896110 0.2694 None gnomAD-2.1.1 4.02E-06
25668 68 G/V 100 rs771896110 0.2694 None gnomAD-4.0.0 1.59196E-06
25669 69 C/S 102 None 0.1955 None gnomAD-4.0.0 1.20032E-06
25670 70 S/G 103 None 0.1968 None gnomAD-4.0.0 2.73734E-06
25670 70 S/T 103 rs774024917 0.1968 None gnomAD-2.1.1 4.02E-06
25670 70 S/T 103 rs774024917 0.1968 None gnomAD-3.1.2 1.97E-05
25670 70 S/T 103 rs774024917 0.1968 None gnomAD-4.0.0 5.07503E-06
25675 75 V/I 108 None 0.0893 None gnomAD-4.0.0 1.59196E-06
25677 77 A/V 110 None 0.0956 None gnomAD-4.0.0 1.59208E-06
25679 79 N/D 112 rs770512378 0.0916 None gnomAD-4.0.0 1.36873E-06
25679 79 N/H 112 rs770512378 0.0916 None gnomAD-2.1.1 2.14E-05
25679 79 N/H 112 rs770512378 0.0916 None gnomAD-3.1.2 1.31E-05
25679 79 N/H 112 rs770512378 0.0916 None gnomAD-4.0.0 1.73555E-05
25679 79 N/K 112 None 0.0916 None gnomAD-4.0.0 6.84379E-07
25679 79 N/S 112 rs749255859 0.0916 None gnomAD-2.1.1 4.03E-06
25679 79 N/S 112 rs749255859 0.0916 None gnomAD-4.0.0 1.59208E-06
25680 80 E/D 113 None 0.3546 None gnomAD-4.0.0 6.84361E-07
25680 80 E/K 113 rs1385780245 0.3546 None gnomAD-2.1.1 4.02E-06
25680 80 E/K 113 rs1385780245 0.3546 None gnomAD-4.0.0 3.1841E-06
25681 81 Y/C 114 rs988101069 0.5621 None gnomAD-2.1.1 3.19E-05
25681 81 Y/C 114 rs988101069 0.5621 None gnomAD-3.1.2 6.57E-06
25681 81 Y/C 114 rs988101069 0.5621 None gnomAD-4.0.0 2.02998E-06
25681 81 Y/S 114 None 0.5621 None gnomAD-4.0.0 2.40064E-06
25682 82 G/D 115 rs1249623896 0.1830 None gnomAD-2.1.1 8.05E-06
25682 82 G/D 115 rs1249623896 0.1830 None gnomAD-4.0.0 6.84363E-07
25682 82 G/S 115 rs1331550324 0.1830 None gnomAD-2.1.1 3.19E-05
25682 82 G/V 115 None 0.1830 None gnomAD-4.0.0 1.36873E-06
25683 83 I/F 117 rs375611562 0.5175 None gnomAD-2.1.1 8.05E-06
25683 83 I/F 117 rs375611562 0.5175 None gnomAD-4.0.0 1.36873E-06
25683 83 I/M 117 rs755225678 0.5175 None gnomAD-2.1.1 4.02E-06
25683 83 I/M 117 rs755225678 0.5175 None gnomAD-3.1.2 6.57E-06
25683 83 I/M 117 rs755225678 0.5175 None gnomAD-4.0.0 4.06001E-06
25683 83 I/S 117 None 0.5175 None gnomAD-4.0.0 1.59208E-06
25683 83 I/T 117 rs1707153104 0.5175 None gnomAD-4.0.0 1.59208E-06
25683 83 I/V 117 rs375611562 0.5175 None gnomAD-2.1.1 1.79E-05
25683 83 I/V 117 rs375611562 0.5175 None gnomAD-3.1.2 7.89E-05
25683 83 I/V 117 rs375611562 0.5175 None gnomAD-4.0.0 1.17771E-05
25685 85 L/F 119 rs1707149968 0.6632 None gnomAD-3.1.2 6.58E-06
25685 85 L/F 119 rs1707149968 0.6632 None gnomAD-4.0.0 2.47948E-06
25687 87 A/T 121 rs1707146929 0.1628 None gnomAD-3.1.2 6.58E-06
25687 87 A/T 121 rs1707146929 0.1628 None gnomAD-4.0.0 6.5767E-06
25688 88 Q/H 122 rs2154167487 0.5696 None gnomAD-4.0.0 1.59231E-06
25688 88 Q/R 122 None 0.5696 None gnomAD-4.0.0 1.20032E-06
25689 89 T/A 123 rs1360848714 0.2294 None gnomAD-2.1.1 7.15E-06
25689 89 T/A 123 rs1360848714 0.2294 None gnomAD-3.1.2 1.32E-05
25689 89 T/A 123 rs1360848714 0.2294 None gnomAD-4.0.0 2.47952E-06
25689 89 T/I 123 None 0.2294 None gnomAD-4.0.0 1.36877E-06
25689 89 T/N 123 rs369081503 0.2294 None gnomAD-2.1.1 4.03E-06
25689 89 T/N 123 rs369081503 0.2294 None gnomAD-4.0.0 1.02658E-05
25690 90 A/G 124 rs1344792922 0.6399 None gnomAD-2.1.1 4.03E-06
25690 90 A/G 124 rs1344792922 0.6399 None gnomAD-4.0.0 1.36883E-06
25690 90 A/T 124 rs758341420 0.6399 None gnomAD-2.1.1 4.03E-06
25690 90 A/T 124 rs758341420 0.6399 None gnomAD-4.0.0 9.58187E-06
25690 90 A/V 124 None 0.6399 None gnomAD-4.0.0 1.36883E-06
25691 91 D/G 125 rs1296651230 0.7234 None gnomAD-2.1.1 4.03E-06
25691 91 D/G 125 rs1296651230 0.7234 None gnomAD-4.0.0 1.5923E-06
25692 92 P/A 126 None 0.3118 None gnomAD-4.0.0 2.40064E-06
25693 93 I/N 127 None 0.2246 None gnomAD-4.0.0 1.20032E-06
25693 93 I/T 127 None 0.2246 None gnomAD-4.0.0 1.20032E-06
25693 93 I/V 127 rs765718348 0.2246 None gnomAD-2.1.1 4.03E-06
25693 93 I/V 127 rs765718348 0.2246 None gnomAD-4.0.0 3.42205E-06
25694 94 K/N 129 rs757757476 0.3134 None gnomAD-2.1.1 4.03E-06
25694 94 K/N 129 rs757757476 0.3134 None gnomAD-4.0.0 1.59237E-06
25697 97 E/K 132 rs754291492 0.2182 None gnomAD-2.1.1 4.03E-06
25697 97 E/K 132 rs754291492 0.2182 None gnomAD-4.0.0 3.42208E-06
25697 97 E/V 132 rs764509751 0.2182 None gnomAD-2.1.1 4.03E-06
25697 97 E/V 132 rs764509751 0.2182 None gnomAD-3.1.2 6.58E-06
25697 97 E/V 132 rs764509751 0.2182 None gnomAD-4.0.0 1.85966E-06