A31T (p.Ala31Thr) variant of MUTYH (Adenine DNA glycosylase)
A31T (p.Ala31Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs1553131489
- ClinGen CA340137146
- ClinVar RCV000539217
- ClinVar RCV002377080
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.10
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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)