A31D (p.Ala31Asp) variant of MUTYH (Adenine DNA glycosylase)
A31D (p.Ala31Asp) 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; Familial adenomatous polyposis 2; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- rs1645573077
- ClinGen CA340137141
- ClinVar RCV001350839
- ClinVar RCV004651612
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM -0.09
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.25
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: Benign
- 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)