A21P (p.Ala21Pro) variant of MUTYH (Adenine DNA glycosylase)
A21P (p.Ala21Pro) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- rs943979644
- ClinGen CA21840925
- ClinVar RCV001919881
- ClinVar RCV006407004
- Conflicting interpretations
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.12
- MetaLR 0.63
- MetaSVM -0.15
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.33
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)