A13V (p.Ala13Val) variant of MUTYH (Adenine DNA glycosylase)
A13V (p.Ala13Val) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs587780747
- ClinGen CA013492
- ClinVar RCV000123150
- ClinVar RCV000131635
- Conflicting interpretations
- Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- CADD 0.49
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Gastric cancer; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)