A21V (p.Ala21Val) variant of MUTYH (Adenine DNA glycosylase)
A21V (p.Ala21Val) 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 Hereditary cancer-predisposing syndrome; Gastric cancer; Familial adenomatous po. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1057517460
- ClinGen CA16040740
- ClinVar RCV000409877
- ClinVar RCV000571651
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gastric cancer; Familial adenomatous po
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.09
- MetaLR 0.64
- MetaSVM -0.07
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.32
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gastric cancer; Familia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)