10:28905283-28905283 G > A

Classification

Category 3

non_synonymous

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
gene: WAC synonym(s): BM-016, PRO1741, Wwp4, WAC, ENSG00000095787

NM_016628.4 [CDS] Reportable
hgvs_c: NM_016628.4:c.1738G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1826
CDS pos: 1738
translation impact: non_synonymous
protein sequence: NP_057712.2
AA pos: 580
hgvs_p: NP_057712.2:p.Glu580Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.993)

NM_100486.3 [CDS]
hgvs_c: NM_100486.3:c.1429G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1517
CDS pos: 1429
translation impact: non_synonymous
protein sequence: NP_567823.1
AA pos: 477
hgvs_p: NP_567823.1:p.Glu477Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.996)

NR_024557.2 [exon]
hgvs_c: NR_024557.2:n.2212G>A
cDNA pos: 2212

Export Variant

Curation

Uncertain Significance