W12C (p.Trp12Cys) variant of MUTYH (Adenine DNA glycosylase)
W12C (p.Trp12Cys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- rs767402084
- ClinGen CA340137827
- cosmic curated COSV10051
- ClinVar RCV001999437
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 25.60
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)