A40P (p.Ala40Pro) variant of MUTYH (Adenine DNA glycosylase)
A40P (p.Ala40Pro) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- rs1432929984
- ClinGen CA340137069
- ClinVar RCV001359395
- ClinVar RCV005672687
- Conflicting interpretations
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.19
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely 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)