V5A (p.Val5Ala) variant of MUTYH (Adenine DNA glycosylase)
V5A (p.Val5Ala) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- rs1553137063
- ClinGen CA340137891
- ClinVar RCV000640354
- ClinVar RCV004944041
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.82
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)