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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27766 1 S/L 1 None 0.1383 None gnomAD-4.0.0 1.36915E-06
27767 2 P/L 2 rs753567973 0.0921 None gnomAD-2.1.1 4.06E-06
27767 2 P/L 2 rs753567973 0.0921 None gnomAD-4.0.0 1.59317E-06
27767 2 P/Q 2 rs753567973 0.0921 None gnomAD-2.1.1 2.03E-05
27767 2 P/Q 2 rs753567973 0.0921 None gnomAD-4.0.0 1.59317E-05
27767 2 P/T 2 rs184643087 0.0921 None gnomAD-2.1.1 2.37398E-04
27767 2 P/T 2 rs184643087 0.0921 None gnomAD-3.1.2 7.56191E-04
27767 2 P/T 2 rs184643087 0.0921 None 1000 genomes 3.99361E-04
27767 2 P/T 2 rs184643087 0.0921 None gnomAD-4.0.0 1.31432E-04
27768 3 S/G 3 rs1460650626 0.1655 None gnomAD-3.1.2 1.97E-05
27768 3 S/G 3 rs1460650626 0.1655 None gnomAD-4.0.0 4.95971E-06
27768 3 S/N 3 rs763612512 0.1655 None gnomAD-2.1.1 4.46E-05
27768 3 S/N 3 rs763612512 0.1655 None gnomAD-4.0.0 5.47641E-06
27768 3 S/T 3 rs763612512 0.1655 None gnomAD-3.1.2 6.57E-06
27768 3 S/T 3 rs763612512 0.1655 None gnomAD-4.0.0 1.85996E-06
27769 4 A/S 4 None 0.2164 None gnomAD-4.0.0 1.20033E-06
27769 4 A/V 4 None 0.2164 None gnomAD-4.0.0 5.47655E-06
27770 5 P/A 5 None 0.1627 None gnomAD-4.0.0 1.59319E-06
27772 7 N/I 7 rs578191491 0.5825 None gnomAD-2.1.1 5.24538E-04
27772 7 N/I 7 rs578191491 0.5825 None gnomAD-3.1.2 1.27529E-03
27772 7 N/I 7 rs578191491 0.5825 None 1000 genomes 5.99042E-04
27772 7 N/I 7 rs578191491 0.5825 None gnomAD-4.0.0 3.48394E-04
27773 8 L/F 9 rs767568495 0.2820 None gnomAD-2.1.1 4.05E-06
27773 8 L/F 9 rs767568495 0.2820 None gnomAD-4.0.0 2.05368E-06
27773 8 L/M 9 None 0.2820 None gnomAD-4.0.0 6.84508E-07
27773 8 L/V 9 rs376683928 0.2820 None gnomAD-4.0.0 1.36902E-06
27774 9 T/I 11 rs1704174371 0.5208 None gnomAD-4.0.0 6.84552E-07
27774 9 T/N 11 None 0.5208 None gnomAD-4.0.0 1.3691E-06
27774 9 T/S 11 None 0.5208 None gnomAD-4.0.0 6.84552E-07
27775 10 I/T 12 rs769577217 0.3835 None gnomAD-2.1.1 1.62E-05
27775 10 I/T 12 rs769577217 0.3835 None gnomAD-4.0.0 2.94319E-05
27775 10 I/V 12 rs3829746 0.3835 None gnomAD-2.1.1 3.51982E-01
27775 10 I/V 12 rs3829746 0.3835 None gnomAD-3.1.2 3.61673E-01
27775 10 I/V 12 rs3829746 0.3835 None 1000 genomes 5.08387E-01
27775 10 I/V 12 rs3829746 0.3835 None gnomAD-4.0.0 2.77343E-01
27776 11 R/K 13 rs2154160964 0.8119 None gnomAD-4.0.0 1.20032E-06
27777 12 E/A 14 None 0.4946 None gnomAD-4.0.0 1.59268E-06
27778 13 V/A 15 None 0.4347 None gnomAD-4.0.0 1.20032E-06
27778 13 V/L 15 rs749009127 0.4347 None gnomAD-2.1.1 1.79E-05
27778 13 V/L 15 rs749009127 0.4347 None gnomAD-3.1.2 3.29E-05
27778 13 V/L 15 rs749009127 0.4347 None gnomAD-4.0.0 7.43888E-06
27778 13 V/M 15 None 0.4347 None gnomAD-4.0.0 6.84458E-07
27779 14 K/N 16 rs1410411613 0.4354 None gnomAD-2.1.1 3.19E-05
27779 14 K/N 16 rs1410411613 0.4354 None gnomAD-3.1.2 6.57E-06
27779 14 K/N 16 rs1410411613 0.4354 None gnomAD-4.0.0 2.56416E-06
27781 16 D/N 18 rs773517655 0.3706 None gnomAD-2.1.1 4.04E-06
27781 16 D/N 18 rs773517655 0.3706 None gnomAD-4.0.0 1.3689E-06
27781 16 D/V 18 None 0.3706 None gnomAD-4.0.0 1.20033E-06
27781 16 D/Y 18 None 0.3706 None gnomAD-4.0.0 6.84451E-07
27782 17 S/L 19 rs769862471 0.1256 None gnomAD-2.1.1 4.04E-06
27782 17 S/L 19 rs769862471 0.1256 None gnomAD-4.0.0 1.59248E-06
27782 17 S/P 19 None 0.1256 None gnomAD-4.0.0 1.20032E-06
27784 19 T/K 21 None 0.2157 None gnomAD-4.0.0 6.84433E-07
27784 19 T/M 21 rs140879454 0.2157 None gnomAD-2.1.1 3.63E-05
27784 19 T/M 21 rs140879454 0.2157 None gnomAD-3.1.2 1.97E-05
27784 19 T/M 21 rs140879454 0.2157 None 1000 genomes 1.99681E-04
27784 19 T/M 21 rs140879454 0.2157 None gnomAD-4.0.0 1.36366E-05
27785 20 L/F 22 None 0.1264 None gnomAD-4.0.0 1.59239E-06
27785 20 L/S 22 None 0.1264 None gnomAD-4.0.0 1.20032E-06
27789 24 P/A 26 rs1704156538 0.5313 None gnomAD-3.1.2 6.57E-06
27789 24 P/A 26 rs1704156538 0.5313 None gnomAD-4.0.0 6.57436E-06
27789 24 P/T 26 rs1704156538 0.5313 None gnomAD-3.1.2 6.57E-06
27790 25 P/S 27 rs1427845923 0.2230 None gnomAD-2.1.1 8.07E-06
27790 25 P/S 27 rs1427845923 0.2230 None gnomAD-4.0.0 4.79146E-06
27791 26 L/F 28 rs755033702 1.1759 None gnomAD-2.1.1 1.79E-05
27791 26 L/F 28 rs755033702 1.1759 None gnomAD-3.1.2 6.57E-06
27791 26 L/F 28 rs755033702 1.1759 None gnomAD-4.0.0 5.57968E-06
27791 26 L/I 28 None 1.1759 None gnomAD-4.0.0 1.36905E-06
27791 26 L/P 28 None 1.1759 None gnomAD-4.0.0 4.78062E-06
27792 27 I/T 29 rs747559346 0.3612 None gnomAD-2.1.1 1.61E-05
27792 27 I/T 29 rs747559346 0.3612 None gnomAD-4.0.0 7.5308E-06
27793 28 D/G 30 None 0.3495 None gnomAD-4.0.0 1.594E-06
27794 29 G/D 31 None 0.1120 None gnomAD-4.0.0 1.20033E-06
27794 29 G/S 31 None 0.1120 None gnomAD-3.1.2 6.57E-06
27794 29 G/S 31 None 0.1120 None gnomAD-4.0.0 2.03E-06
27795 30 G/E 32 rs2154160926 0.3738 None gnomAD-4.0.0 1.20033E-06
27796 31 A/G 33 rs368241592 0.1337 None gnomAD-2.1.1 4.04E-06
27796 31 A/G 33 rs368241592 0.1337 None gnomAD-4.0.0 6.85141E-07
27796 31 A/T 33 rs780507493 0.1337 None gnomAD-2.1.1 4.04E-06
27796 31 A/T 33 rs780507493 0.1337 None gnomAD-4.0.0 6.38439E-06
27796 31 A/V 33 rs368241592 0.1337 None gnomAD-2.1.1 2.02E-05
27796 31 A/V 33 rs368241592 0.1337 None gnomAD-3.1.2 1.97E-05
27796 31 A/V 33 rs368241592 0.1337 None 1000 genomes 1.99681E-04
27796 31 A/V 33 rs368241592 0.1337 None gnomAD-4.0.0 9.30655E-06
27798 33 I/N 35 None 0.2190 None gnomAD-4.0.0 1.60035E-06
27798 33 I/T 35 None 0.2190 None gnomAD-4.0.0 1.60035E-06
27802 37 I/T 39 rs887481991 0.1331 None gnomAD-2.1.1 4.09E-06
27802 37 I/T 39 rs887481991 0.1331 None gnomAD-3.1.2 1.31E-05
27802 37 I/T 39 rs887481991 0.1331 None gnomAD-4.0.0 3.87894E-06
27802 37 I/V 39 rs727504723 0.1331 None gnomAD-2.1.1 4.08E-06
27802 37 I/V 39 rs727504723 0.1331 None gnomAD-3.1.2 1.31E-05
27802 37 I/V 39 rs727504723 0.1331 None gnomAD-4.0.0 1.30687E-05
27803 38 V/A 40 None 0.0789 None gnomAD-4.0.0 1.61557E-06
27803 38 V/F 40 rs752391829 0.0789 None gnomAD-2.1.1 7.29E-06
27803 38 V/F 40 rs752391829 0.0789 None gnomAD-4.0.0 1.61503E-06
27803 38 V/L 40 None 0.0789 None gnomAD-4.0.0 1.61503E-06
27804 39 E/K 41 rs759095633 0.0992 None gnomAD-2.1.1 2.51E-05
27804 39 E/K 41 rs759095633 0.0992 None gnomAD-4.0.0 1.24416E-05
27805 40 K/N 42 rs774475131 0.1865 None gnomAD-2.1.1 4.18E-06
27805 40 K/N 42 rs774475131 0.1865 None gnomAD-4.0.0 1.62829E-06
27805 40 K/R 42 rs1215650714 0.1865 None gnomAD-2.1.1 4.18E-06
27805 40 K/R 42 rs1215650714 0.1865 None gnomAD-4.0.0 1.62705E-06
27806 41 R/Q 43 rs192301247 0.1656 None gnomAD-2.1.1 1.27E-05
27806 41 R/Q 43 rs192301247 0.1656 None gnomAD-3.1.2 3.94E-05
27806 41 R/Q 43 rs192301247 0.1656 None 1000 genomes 1.99681E-04
27806 41 R/Q 43 rs192301247 0.1656 None gnomAD-4.0.0 1.00189E-05
27807 42 E/G 44 None 0.1563 None gnomAD-4.0.0 3.60097E-06
27807 42 E/Q 44 rs1439000157 0.1563 None gnomAD-2.1.1 4.23E-06
27807 42 E/Q 44 rs1439000157 0.1563 None gnomAD-4.0.0 1.63494E-06
27809 44 T/A 54 None 0.7369 None gnomAD-4.0.0 1.63701E-06
27809 44 T/I 54 rs922881378 0.7369 None gnomAD-2.1.1 8.51E-06
27809 44 T/I 54 rs922881378 0.7369 None gnomAD-4.0.0 1.63708E-06
27810 45 R/T 60 None 0.4874 None gnomAD-4.0.0 1.20032E-06
27811 46 K/N 63 None 1.0452 None gnomAD-4.0.0 1.20032E-06
27812 47 A/D 64 None 0.5109 None gnomAD-4.0.0 6.92527E-07
27812 47 A/S 64 rs727504186 0.5109 None gnomAD-2.1.1 1.71E-05
27812 47 A/S 64 rs727504186 0.5109 None gnomAD-3.1.2 6.58E-06
27812 47 A/S 64 rs727504186 0.5109 None gnomAD-4.0.0 6.89373E-06
27812 47 A/V 64 rs1041573926 0.5109 None gnomAD-4.0.0 6.92527E-07
27813 48 Y/C 65 None 0.1729 None gnomAD-4.0.0 1.63898E-06
27814 49 A/D 66 rs769623982 0.3071 None gnomAD-2.1.1 8.5E-06
27814 49 A/D 66 rs769623982 0.3071 None gnomAD-4.0.0 2.0775E-06
27814 49 A/G 66 None 0.3071 None gnomAD-4.0.0 6.92501E-07
27814 49 A/P 66 rs772828081 0.3071 None gnomAD-2.1.1 8.5E-06
27814 49 A/P 66 rs772828081 0.3071 None gnomAD-4.0.0 4.1551E-06
27815 50 T/I 67 None 0.3882 None gnomAD-4.0.0 1.6372E-06
27816 51 I/T 68 rs1250426493 0.1843 None gnomAD-4.0.0 1.20032E-06
27816 51 I/V 68 None 0.1843 None gnomAD-4.0.0 2.40064E-06
27820 55 C/Y 77 rs1170620319 0.0869 None gnomAD-2.1.1 4.31E-06
27820 55 C/Y 77 rs1170620319 0.0869 None gnomAD-4.0.0 1.63849E-06
27821 56 T/A 83 rs1704127036 0.6940 None gnomAD-3.1.2 6.57E-06
27821 56 T/A 83 rs1704127036 0.6940 None gnomAD-4.0.0 6.57298E-06
27821 56 T/S 83 None 0.6940 None gnomAD-4.0.0 1.20032E-06
27822 57 K/E 88 rs1269206431 0.7614 None gnomAD-2.1.1 4.3E-06
27823 58 T/A 89 rs940216066 0.2819 None gnomAD-2.1.1 4.28E-06
27823 58 T/A 89 rs940216066 0.2819 None gnomAD-3.1.2 6.57E-06
27823 58 T/A 89 rs940216066 0.2819 None gnomAD-4.0.0 3.9291E-06
27824 59 T/I 90 None 0.4232 None gnomAD-4.0.0 1.20033E-06
27825 60 F/S 91 None 0.2241 None gnomAD-4.0.0 4.89272E-06
27827 62 I/T 93 None 0.0810 None gnomAD-4.0.0 1.62714E-06
27828 63 E/D 94 rs1234125693 0.5064 None gnomAD-2.1.1 4.25E-06
27828 63 E/D 94 rs1234125693 0.5064 None gnomAD-4.0.0 1.625E-06
27829 64 N/K 96 rs374322635 0.8504 None gnomAD-2.1.1 8.48E-06
27829 64 N/K 96 rs374322635 0.8504 None gnomAD-3.1.2 6.57E-06
27829 64 N/K 96 rs374322635 0.8504 None gnomAD-4.0.0 1.38009E-06
27831 66 Q/P 98 rs758772714 0.5830 None gnomAD-2.1.1 4.21E-06
27831 66 Q/P 98 rs758772714 0.5830 None gnomAD-4.0.0 3.4467E-06
27831 66 Q/R 98 rs758772714 0.5830 None gnomAD-2.1.1 4.21E-06
27831 66 Q/R 98 rs758772714 0.5830 None gnomAD-4.0.0 3.4467E-06
27832 67 E/V 99 rs746250521 0.4714 None gnomAD-2.1.1 4.21E-06
27832 67 E/V 99 rs746250521 0.4714 None gnomAD-3.1.2 6.57E-06
27832 67 E/V 99 rs746250521 0.4714 None gnomAD-4.0.0 6.57203E-06
27833 68 G/R 100 None 0.3279 None gnomAD-4.0.0 3.44414E-06
27834 69 C/Y 102 None 0.1626 None gnomAD-4.0.0 6.87609E-07
27837 72 Y/C 105 rs1324677540 0.2135 None gnomAD-2.1.1 4.09E-06
27837 72 Y/C 105 rs1324677540 0.2135 None gnomAD-4.0.0 1.60393E-06
27839 74 R/L 107 rs376820301 0.1804 None gnomAD-2.1.1 3.18E-05
27839 74 R/L 107 rs376820301 0.1804 None gnomAD-3.1.2 1.31E-05
27839 74 R/L 107 rs376820301 0.1804 None gnomAD-4.0.0 1.31442E-05
27839 74 R/Q 107 rs376820301 0.1804 None gnomAD-2.1.1 4.30308E-04
27839 74 R/Q 107 rs376820301 0.1804 None gnomAD-3.1.2 3.74616E-04
27839 74 R/Q 107 rs376820301 0.1804 None 1000 genomes 3.99361E-04
27839 74 R/Q 107 rs376820301 0.1804 None gnomAD-4.0.0 6.05539E-04
27840 75 V/A 108 rs752446232 0.0831 None gnomAD-2.1.1 2.04E-05
27840 75 V/A 108 rs752446232 0.0831 None gnomAD-4.0.0 9.60344E-06
27840 75 V/I 108 None 0.0831 None gnomAD-4.0.0 6.00161E-06
27844 79 N/H 112 None 0.0934 None gnomAD-4.0.0 1.59905E-06
27844 79 N/K 112 None 0.0934 None gnomAD-4.0.0 3.19828E-06
27844 79 N/S 112 rs754569815 0.0934 None gnomAD-2.1.1 4.07E-06
27844 79 N/S 112 rs754569815 0.0934 None gnomAD-4.0.0 4.79945E-06
27845 80 E/K 113 rs751068189 0.4312 None gnomAD-2.1.1 4.07E-06
27845 80 E/K 113 rs751068189 0.4312 None gnomAD-4.0.0 1.59911E-06
27846 81 Y/C 114 None 0.3078 None gnomAD-4.0.0 1.37125E-06
27847 82 G/R 115 None 0.2025 None gnomAD-4.0.0 2.05684E-06
27848 83 I/T 117 rs397517723 0.5392 None gnomAD-2.1.1 1.22E-05
27848 83 I/T 117 rs397517723 0.5392 None gnomAD-4.0.0 4.11295E-06
27849 84 G/A 118 None 0.1292 None gnomAD-4.0.0 1.20032E-06
27849 84 G/R 118 rs1704096127 0.1292 None gnomAD-4.0.0 1.37108E-06
27849 84 G/V 118 None 0.1292 MmD
Literature None
27852 87 A/D 121 None 0.1706 None gnomAD-3.1.2 6.57E-06
27852 87 A/D 121 None 0.1706 None gnomAD-4.0.0 6.57315E-06
27852 87 A/G 121 rs541476378 0.1706 None gnomAD-4.0.0 3.60097E-06
27853 88 E/K 122 None 0.3068 None gnomAD-4.0.0 1.59873E-06
27854 89 T/A 123 rs876658086 0.2049 None gnomAD-2.1.1 3.18E-05
27854 89 T/A 123 rs876658086 0.2049 None gnomAD-3.1.2 6.57E-06
27854 89 T/A 123 rs876658086 0.2049 None gnomAD-4.0.0 6.57168E-06
27854 89 T/K 123 None 0.2049 None gnomAD-4.0.0 1.59826E-06
27855 90 T/I 124 rs1268315067 0.8619 None gnomAD-2.1.1 3.18E-05
27855 90 T/I 124 rs1268315067 0.8619 None gnomAD-3.1.2 1.31E-05
27855 90 T/I 124 rs1268315067 0.8619 None gnomAD-4.0.0 1.8624E-06
27857 92 P/A 126 None 0.3151 None gnomAD-4.0.0 1.20032E-06
27857 92 P/L 126 None 0.3151 None gnomAD-4.0.0 6.85636E-07
27858 93 V/A 127 rs1704088827 0.2488 None gnomAD-4.0.0 1.59849E-06
27858 93 V/I 127 rs778221988 0.2488 None gnomAD-2.1.1 5.41E-05
27858 93 V/I 127 rs778221988 0.2488 None gnomAD-3.1.2 2.63E-05
27858 93 V/I 127 rs778221988 0.2488 None gnomAD-4.0.0 1.56472E-04
27859 94 K/E 129 rs761633407 0.5689 None gnomAD-2.1.1 7.32E-05
27859 94 K/E 129 rs761633407 0.5689 None gnomAD-3.1.2 3.29E-05
27859 94 K/E 129 rs761633407 0.5689 None gnomAD-4.0.0 2.483E-05
27859 94 K/N 129 None 0.5689 None gnomAD-4.0.0 1.59889E-06
27860 95 V/A 130 None 0.0808 None gnomAD-4.0.0 1.60069E-06
27860 95 V/L 130 None 0.0808 None gnomAD-4.0.0 3.19862E-06
27861 96 S/F 131 None 0.5024 None gnomAD-4.0.0 3.19901E-06