C51Y (p.Cys51Tyr) variant of MUTYH (Adenine DNA glycosylase)
C51Y (p.Cys51Tyr) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2. 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.
C51Y (p.Cys51Tyr) variant details
- p.Cys51Tyr
- rs1476095647
- ClinGen CA340136941
- ClinVar RCV001898062
- gnomAD rs1476095647
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM -0.37
- PolyPhen-2 0.01
- SIFT 0.05
- MutPred 0.20
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)