W12S (p.Trp12Ser) variant of MUTYH (Adenine DNA glycosylase)
W12S (p.Trp12Ser) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
W12S (p.Trp12Ser) variant details
- p.Trp12Ser
- rs1064795596
- ClinGen CA340137833
- ClinVar RCV001020690
- ClinVar RCV001351536
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 15.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)