C51F (p.Cys51Phe) variant of MUTYH (Adenine DNA glycosylase)
C51F (p.Cys51Phe) 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 Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
C51F (p.Cys51Phe) variant details
- p.Cys51Phe
- rs1476095647
- ClinGen CA340136940
- ClinVar RCV001524179
- ClinVar RCV006467602
- Uncertain significance
- Hereditary cancer-predisposing syndrome; 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 (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)