V212M (p.Val212Met) variant of MUTYH (Adenine DNA glycosylase)
V212M (p.Val212Met) 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; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V212M (p.Val212Met) variant details
- p.Val212Met
- rs776487884
- ClinGen CA014022
- cosmic curated COSV58344
- ClinVar RCV000164298
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.62
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.65
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)