Classification
Category 3
non_synonymous
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: ITGA8
synonym(s): ITGA8, ENSG00000077943
ENST00000378076.3
[CDS]
Reportable
hgvs_c: ENST00000378076.3:c.1706C>T
reference AA: P
variant AA: L
reference codon: cCt
variant codon: cTt
cDNA pos: 2060
CDS pos: 1706
translation impact: non_synonymous
protein sequence:
ENSP00000367316.3
AA pos: 569
hgvs_p: ENSP00000367316.3:p.Pro569Leu
blosum: -3
SIFT: tolerated (0.43)
PolyPhen2: benign (0.002)
dbSNP
rs571005046
GMAF = 0.0001997
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10304 |
0% |
| America/Latino |
0 / 11540 |
0% |
| East Asian |
0 / 8630 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
0 / 66480 |
0% |
| Other |
0 / 906 |
0% |
| South Asian |
1 / 16484 |
0.00607% |
| Total MAF |
1 / 120956 |
0.000827% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16246 |
0% |
| America/Latino |
0 / 34582 |
0% |
| Ashkenazi Jewish |
0 / 10060 |
0% |
| East Asian |
0 / 18388 |
0% |
| Finnish |
0 / 21648 |
0% |
| Non-Finnish |
0 / 113374 |
0% |
| Other |
0 / 6124 |
0% |
| South Asian |
2 / 30614 |
0.00653% |
| Korean |
0 / 3814 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 240 |
0% |
| North-Western European |
0 / 41974 |
0% |
| Southern European |
0 / 11484 |
0% |
| Swedish |
0 / 26128 |
0% |
| Other non-Finnish European |
0 / 30880 |
0% |
| Total MAF |
2 / 251036 |
0.000797% |
Export Variant
Curation
Uncertain Significance