A50T (p.Ala50Thr) variant of MUTYH (Adenine DNA glycosylase)
A50T (p.Ala50Thr) 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 0.45 / 1. The record also includes published literature and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs876660488
- ClinGen CA10577748
- ClinVar RCV000214827
- ClinVar RCV000640370
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.07
- MetaLR 0.50
- MetaSVM -0.47
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.20
- 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)