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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27570 1 P/L 1 rs1704409600 0.9182 None gnomAD-4.0.0 1.59153E-06
27571 2 P/L 2 None 0.1797 None gnomAD-4.0.0 1.36851E-06
27571 2 P/S 2 None 0.1797 None gnomAD-4.0.0 2.05277E-06
27572 3 G/A 3 rs1308840853 0.2620 None gnomAD-2.1.1 4.03E-06
27572 3 G/A 3 rs1308840853 0.2620 None gnomAD-4.0.0 1.59153E-06
27572 3 G/R 3 None 0.2620 None gnomAD-4.0.0 2.73703E-06
27574 5 P/L 5 None 0.1372 None gnomAD-4.0.0 4.10556E-06
27575 6 S/G 6 rs763068189 0.2561 None gnomAD-2.1.1 4.03E-06
27575 6 S/G 6 rs763068189 0.2561 None gnomAD-4.0.0 3.18304E-06
27576 7 N/S 7 rs773621324 0.7969 None gnomAD-2.1.1 4.03E-06
27577 8 P/A 9 None 0.2627 None gnomAD-4.0.0 6.84256E-07
27577 8 P/T 9 None 0.2627 None gnomAD-4.0.0 6.84256E-07
27578 9 K/E 11 rs368850871 0.4817 None gnomAD-2.1.1 3.22E-05
27578 9 K/E 11 rs368850871 0.4817 None gnomAD-3.1.2 2.63E-05
27578 9 K/E 11 rs368850871 0.4817 None gnomAD-4.0.0 1.73541E-05
27579 10 V/M 12 None 0.3218 None gnomAD-4.0.0 1.59154E-06
27580 11 T/M 13 rs748535477 0.3598 None gnomAD-2.1.1 6.08E-05
27580 11 T/M 13 rs748535477 0.3598 None gnomAD-3.1.2 1.32E-05
27580 11 T/M 13 rs748535477 0.3598 None gnomAD-4.0.0 2.72716E-05
27580 11 T/S 13 None 0.3598 None gnomAD-4.0.0 3.18309E-06
27581 12 D/Y 14 rs1471458270 0.6096 None gnomAD-2.1.1 8.06E-06
27581 12 D/Y 14 rs1471458270 0.6096 None gnomAD-4.0.0 1.36853E-06
27582 13 T/A 15 rs1704394445 0.4639 None gnomAD-4.0.0 3.18313E-06
27582 13 T/I 15 None 0.4639 None gnomAD-4.0.0 1.59157E-06
27585 16 S/Y 18 rs72648215 0.3002 None gnomAD-2.1.1 9.31E-05
27585 16 S/Y 18 rs72648215 0.3002 None gnomAD-3.1.2 9.21E-05
27585 16 S/Y 18 rs72648215 0.3002 None gnomAD-4.0.0 7.06567E-05
27587 18 V/I 20 rs876658085 0.1153 None gnomAD-4.0.0 1.20032E-06
27588 19 S/F 21 None 0.1605 None gnomAD-4.0.0 4.80129E-06
27590 21 A/P 23 None 0.0938 None gnomAD-4.0.0 6.84278E-07
27592 23 S/N 25 None 0.3983 None gnomAD-4.0.0 1.5916E-06
27593 24 K/Q 26 None 0.7947 None gnomAD-4.0.0 3.18321E-06
27596 27 Y/C 29 None 0.4443 None gnomAD-4.0.0 1.20032E-06
27597 28 D/H 30 None 0.2842 None gnomAD-4.0.0 1.20032E-06
27598 29 G/S 31 rs985566463 0.2198 None gnomAD-2.1.1 7.16E-06
27598 29 G/S 31 rs985566463 0.2198 None gnomAD-3.1.2 1.32E-05
27598 29 G/S 31 rs985566463 0.2198 None gnomAD-4.0.0 3.09888E-06
27599 30 G/D 32 rs1553571755 0.5178 None gnomAD-4.0.0 1.20032E-06
27599 30 G/S 32 None 0.5178 None gnomAD-4.0.0 1.20032E-06
27600 31 A/T 33 rs11896637 0.2152 None gnomAD-2.1.1 1.10325E-02
27600 31 A/T 33 rs11896637 0.2152 None gnomAD-3.1.2 3.2295E-02
27600 31 A/T 33 rs11896637 0.2152 None 1000 genomes 3.55431E-02
27600 31 A/T 33 rs11896637 0.2152 None gnomAD-4.0.0 6.5352E-03
27601 32 P/H 34 rs1268002707 0.7214 None gnomAD-2.1.1 4.03E-06
27601 32 P/H 34 rs1268002707 0.7214 None gnomAD-4.0.0 1.59161E-06
27601 32 P/S 34 None 0.7214 None gnomAD-4.0.0 1.5916E-06
27601 32 P/T 34 None 0.7214 None gnomAD-4.0.0 3.18319E-06
27602 33 V/L 35 rs886038821 0.3623 None gnomAD-3.1.2 1.97E-05
27602 33 V/L 35 rs886038821 0.3623 None gnomAD-4.0.0 5.12538E-06
27603 34 K/I 36 None 0.3356 None gnomAD-4.0.0 1.20032E-06
27604 35 G/A 37 rs1704369603 0.0946 None gnomAD-4.0.0 3.18322E-06
27604 35 G/R 37 rs199929362 0.0946 None gnomAD-2.1.1 4.03E-06
27604 35 G/R 37 rs199929362 0.0946 None gnomAD-3.1.2 1.31E-05
27604 35 G/R 37 rs199929362 0.0946 None gnomAD-4.0.0 3.09885E-06
27604 35 G/S 37 rs199929362 0.0946 None gnomAD-2.1.1 4.97277E-04
27604 35 G/S 37 rs199929362 0.0946 None gnomAD-3.1.2 2.62981E-04
27604 35 G/S 37 rs199929362 0.0946 None gnomAD-4.0.0 2.47289E-04
27605 36 Y/C 38 rs753352392 0.1211 None gnomAD-2.1.1 1.61E-05
27605 36 Y/C 38 rs753352392 0.1211 None gnomAD-4.0.0 6.36645E-06
27606 37 V/A 39 rs1395661220 0.3026 None gnomAD-2.1.1 4.03E-06
27606 37 V/I 39 rs777713575 0.3026 None gnomAD-2.1.1 4.03E-06
27607 38 V/A 40 rs752494467 0.0711 None gnomAD-2.1.1 4.03E-06
27607 38 V/A 40 rs752494467 0.0711 None gnomAD-4.0.0 2.05281E-06
27608 39 E/D 41 None 0.1758 None gnomAD-4.0.0 1.59162E-06
27608 39 E/Q 41 None 0.1758 None gnomAD-4.0.0 3.18322E-06
27609 40 V/I 42 rs767367789 0.1212 None gnomAD-2.1.1 8.06E-06
27609 40 V/I 42 rs767367789 0.1212 None gnomAD-4.0.0 3.18322E-06
27609 40 V/L 42 rs767367789 0.1212 None gnomAD-3.1.2 1.31E-05
27609 40 V/L 42 rs767367789 0.1212 None gnomAD-4.0.0 5.12552E-06
27611 42 E/D 44 None 0.3341 None gnomAD-4.0.0 1.59159E-06
27611 42 E/G 44 None 0.3341 None gnomAD-4.0.0 1.20033E-06
27611 42 E/Q 44 rs759363145 0.3341 None gnomAD-2.1.1 4.03E-06
27611 42 E/Q 44 rs759363145 0.3341 None gnomAD-4.0.0 3.18315E-06
27612 43 A/D 50 None 0.4950 None gnomAD-4.0.0 2.0528E-06
27613 44 A/S 54 None 0.6200 None gnomAD-4.0.0 6.15833E-06
27613 44 A/V 54 rs751779815 0.6200 None gnomAD-2.1.1 4.03E-06
27613 44 A/V 54 rs751779815 0.6200 None gnomAD-4.0.0 1.59156E-06
27614 45 A/E 60 rs762964203 0.3015 None gnomAD-2.1.1 8.06E-06
27614 45 A/E 60 rs762964203 0.3015 None gnomAD-4.0.0 6.84268E-07
27614 45 A/V 60 rs762964203 0.3015 None gnomAD-2.1.1 4.03E-06
27614 45 A/V 60 rs762964203 0.3015 None gnomAD-3.1.2 6.58E-06
27614 45 A/V 60 rs762964203 0.3015 None gnomAD-4.0.0 4.95829E-06
27615 46 D/H 63 None 1.1260 None gnomAD-4.0.0 3.18313E-06
27617 48 W/R 65 None 0.2238 None gnomAD-4.0.0 6.84266E-06
27619 50 T/A 67 rs1704351645 0.4942 None gnomAD-4.0.0 4.77449E-06
27620 51 C/F 68 rs762472521 0.1574 None gnomAD-2.1.1 8.05E-06
27620 51 C/F 68 rs762472521 0.1574 None gnomAD-3.1.2 1.31E-05
27620 51 C/F 68 rs762472521 0.1574 None gnomAD-4.0.0 3.09879E-06
27621 52 T/I 69 rs777261234 0.0944 None gnomAD-2.1.1 4.03E-06
27621 52 T/I 69 rs777261234 0.0944 None gnomAD-4.0.0 1.3685E-06
27621 52 T/S 69 rs1483279055 0.0944 None gnomAD-2.1.1 1.07E-05
27621 52 T/S 69 rs1483279055 0.0944 None gnomAD-3.1.2 6.58E-06
27621 52 T/S 69 rs1483279055 0.0944 None gnomAD-4.0.0 3.84416E-06
27622 53 P/T 70 rs769189431 0.3942 None gnomAD-2.1.1 1.43E-05
27622 53 P/T 70 rs769189431 0.3942 None gnomAD-3.1.2 6.58E-05
27622 53 P/T 70 rs769189431 0.3942 None gnomAD-4.0.0 9.91618E-06
27624 55 T/I 74 rs1001331770 0.8130 None gnomAD-4.0.0 1.59145E-06
27625 56 G/A 75 None 0.2572 None gnomAD-2.1.1 3.19E-05
27625 56 G/A 75 None 0.2572 None gnomAD-3.1.2 6.57E-06
27625 56 G/A 75 None 0.2572 None gnomAD-4.0.0 1.2395E-06
27625 56 G/E 75 None 0.2572 None gnomAD-4.0.0 6.84249E-07
27625 56 G/R 75 None 0.2572 None gnomAD-4.0.0 1.59144E-06
27625 56 G/V 75 rs1466577796 0.2572 None gnomAD-2.1.1 8.05E-06
27625 56 G/V 75 rs1466577796 0.2572 None gnomAD-4.0.0 2.05275E-06
27627 58 Q/H 83 rs878939366 0.8710 None gnomAD-4.0.0 1.20032E-06
27627 58 Q/K 83 None 0.8710 None gnomAD-2.1.1 1.79E-05
27627 58 Q/K 83 None 0.8710 None gnomAD-3.1.2 6.57E-06
27627 58 Q/K 83 None 0.8710 None gnomAD-4.0.0 3.71847E-06
27628 59 G/R 88 rs773909467 0.2902 None gnomAD-2.1.1 4.03E-06
27630 61 Q/E 90 None 0.3453 None gnomAD-4.0.0 1.20032E-06
27630 61 Q/K 90 None 0.3453 None gnomAD-4.0.0 1.20032E-06
27630 61 Q/P 90 rs375607506 0.3453 None gnomAD-2.1.1 1.79E-05
27630 61 Q/P 90 rs375607506 0.3453 None gnomAD-3.1.2 6.57E-06
27630 61 Q/P 90 rs375607506 0.3453 None gnomAD-4.0.0 8.67611E-06
27632 63 T/I 92 rs1229009880 0.3613 None gnomAD-2.1.1 4.03E-06
27632 63 T/I 92 rs1229009880 0.3613 None gnomAD-4.0.0 1.36849E-06
27632 63 T/R 92 None 0.3613 None gnomAD-4.0.0 6.84243E-07
27632 63 T/S 92 rs748765738 0.3613 None gnomAD-2.1.1 4.03E-06
27632 63 T/S 92 rs748765738 0.3613 None gnomAD-4.0.0 4.80129E-06
27634 65 T/I 94 rs780363524 0.4958 None gnomAD-2.1.1 1.16795E-04
27634 65 T/I 94 rs780363524 0.4958 None gnomAD-3.1.2 6.58E-06
27634 65 T/I 94 rs780363524 0.4958 None gnomAD-4.0.0 6.02226E-05
27635 66 K/E 96 None 0.9081 None gnomAD-4.0.0 3.18283E-06
27636 67 L/F 97 None 0.1344 None gnomAD-4.0.0 6.84237E-07
27636 67 L/I 97 None 0.1344 None gnomAD-4.0.0 6.84237E-07
27636 67 L/V 97 rs1319880054 0.1344 None gnomAD-2.1.1 4.03E-06
27636 67 L/V 97 rs1319880054 0.1344 None gnomAD-4.0.0 6.84237E-07
27637 68 K/N 98 rs755617634 0.6374 None gnomAD-2.1.1 2.15E-05
27637 68 K/N 98 rs755617634 0.6374 None gnomAD-3.1.2 6.57E-06
27637 68 K/N 98 rs755617634 0.6374 None gnomAD-4.0.0 5.12483E-06
27637 68 K/T 98 None 0.6374 None gnomAD-4.0.0 3.60097E-06
27639 70 N/D 100 rs748142048 0.6902 None gnomAD-2.1.1 8.05E-06
27639 70 N/D 100 rs748142048 0.6902 None gnomAD-4.0.0 3.18279E-06
27639 70 N/K 100 rs781086219 0.6902 None gnomAD-2.1.1 4.03E-06
27639 70 N/K 100 rs781086219 0.6902 None gnomAD-4.0.0 6.84239E-07
27640 71 T/I 102 rs1553571185 0.1507 None gnomAD-3.1.2 6.57E-06
27640 71 T/I 102 rs1553571185 0.1507 None gnomAD-4.0.0 2.03002E-06
27640 71 T/N 102 None 0.1507 None gnomAD-4.0.0 1.20032E-06
27640 71 T/S 102 rs1553571185 0.1507 None gnomAD-4.0.0 1.59141E-06
27641 72 E/K 103 None 0.4454 None gnomAD-4.0.0 6.84252E-07
27641 72 E/Q 103 None 0.4454 None gnomAD-4.0.0 2.05276E-06
27642 73 Y/C 104 None 0.1207 None gnomAD-4.0.0 1.20032E-06
27643 74 N/D 105 rs1457183253 0.2326 None gnomAD-2.1.1 4.03E-06
27643 74 N/D 105 rs1457183253 0.2326 None gnomAD-3.1.2 1.31E-05
27643 74 N/D 105 rs1457183253 0.2326 None gnomAD-4.0.0 7.68596E-06
27644 75 F/L 106 rs1166436364 0.1027 None gnomAD-2.1.1 4.03E-06
27644 75 F/L 106 rs1166436364 0.1027 None gnomAD-4.0.0 1.36846E-06
27645 76 R/C 107 rs751318609 0.1593 None gnomAD-2.1.1 1.43E-05
27645 76 R/C 107 rs751318609 0.1593 None gnomAD-3.1.2 1.31E-05
27645 76 R/C 107 rs751318609 0.1593 None gnomAD-4.0.0 1.36341E-05
27645 76 R/H 107 rs766522109 0.1593 None gnomAD-2.1.1 1.21E-05
27645 76 R/H 107 rs766522109 0.1593 None gnomAD-3.1.2 6.57E-06
27645 76 R/H 107 rs766522109 0.1593 None gnomAD-4.0.0 9.29586E-06
27646 77 I/V 108 None 0.0605 None gnomAD-4.0.0 1.59135E-06
27647 78 C/Y 109 rs758578228 0.0995 None gnomAD-2.1.1 4.02E-06
27647 78 C/Y 109 rs758578228 0.0995 None gnomAD-4.0.0 1.59137E-06
27648 79 A/P 110 None 0.0953 None gnomAD-4.0.0 1.59137E-06
27650 81 N/K 112 rs750669364 0.1026 None gnomAD-2.1.1 1.61E-05
27650 81 N/K 112 rs750669364 0.1026 None gnomAD-4.0.0 1.43224E-05
27653 84 G/A 115 rs1170971325 0.1978 None gnomAD-3.1.2 6.57E-06
27653 84 G/S 115 rs765461830 0.1978 None gnomAD-2.1.1 1.21E-05
27653 84 G/S 115 rs765461830 0.1978 None gnomAD-4.0.0 1.36846E-06
27653 84 G/V 115 None 0.1978 None gnomAD-4.0.0 1.59138E-06
27654 85 V/I 117 rs1027584774 0.3842 None gnomAD-4.0.0 6.36557E-06
27655 86 G/C 118 None 0.1676 None gnomAD-4.0.0 6.84231E-07
27655 86 G/D 118 rs373745130 0.1676 None gnomAD-2.1.1 7.14E-06
27655 86 G/D 118 rs373745130 0.1676 None gnomAD-3.1.2 1.31E-05
27655 86 G/D 118 rs373745130 0.1676 None gnomAD-4.0.0 1.23946E-05
27655 86 G/S 118 None 0.1676 None gnomAD-4.0.0 6.84231E-07
27656 87 E/G 119 None 0.7860 None gnomAD-4.0.0 1.59139E-06
27656 87 E/K 119 rs1001344341 0.7860 None gnomAD-4.0.0 2.05272E-06
27657 88 P/T 120 None 0.3467 None gnomAD-4.0.0 1.59139E-06
27658 89 A/T 121 rs150150605 0.1874 None gnomAD-2.1.1 2.86E-05
27658 89 A/T 121 rs150150605 0.1874 None gnomAD-3.1.2 9.86E-05
27658 89 A/T 121 rs150150605 0.1874 None 1000 genomes 1.99681E-04
27658 89 A/T 121 rs150150605 0.1874 None gnomAD-4.0.0 1.92102E-05
27659 90 T/I 122 rs764624631 0.3763 None gnomAD-2.1.1 4.02E-06
27659 90 T/I 122 rs764624631 0.3763 None gnomAD-3.1.2 6.57E-06
27659 90 T/I 122 rs764624631 0.3763 None gnomAD-4.0.0 2.56242E-06
27660 91 L/P 123 rs1222575627 0.1344 None gnomAD-2.1.1 4.02E-06
27660 91 L/P 123 rs1222575627 0.1344 None gnomAD-3.1.2 6.57E-06
27660 91 L/P 123 rs1222575627 0.1344 None gnomAD-4.0.0 1.23945E-06
27660 91 L/Q 123 None 0.1344 None gnomAD-4.0.0 6.8424E-07
27661 92 P/L 124 rs770498921 0.7707 None gnomAD-2.1.1 8.04E-06
27661 92 P/L 124 rs770498921 0.7707 None gnomAD-4.0.0 3.18288E-06
27661 92 P/S 124 rs201422612 0.7707 None gnomAD-2.1.1 8.57E-05
27661 92 P/S 124 rs201422612 0.7707 None gnomAD-3.1.2 1.1832E-04
27661 92 P/S 124 rs201422612 0.7707 None gnomAD-4.0.0 7.43676E-05
27662 93 G/D 125 rs1704305205 0.3781 None gnomAD-4.0.0 1.20032E-06
27662 93 G/R 125 None 0.3781 None gnomAD-4.0.0 1.20032E-06
27663 94 S/L 126 None 0.3436 None gnomAD-4.0.0 1.59145E-06
27665 96 V/F 129 None 0.3428 None gnomAD-4.0.0 1.20032E-06
27665 96 V/G 129 rs1704304364 0.3428 None gnomAD-4.0.0 6.84237E-07
27666 97 A/G 130 None 0.0628 None gnomAD-4.0.0 1.20032E-06