V243F (p.Val243Phe) variant of MUTYH (Adenine DNA glycosylase)
V243F (p.Val243Phe) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V243F (p.Val243Phe) variant details
- p.Val243Phe
- rs587780749
- ClinGen CA014236
- ClinVar RCV000123154
- ClinVar RCV000131615
- Pathogenic/Likely pathogenic
- Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.06
- ClinVar: Pathogenic/Likely pathogenic (Familial adenomatous polyposis 2; Gastric cancer; Hereditary can)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)
- Cited in: MUTYH Polyposis. (PMID 23035301)