M15V (p.Met15Val) variant of MUTYH (Adenine DNA glycosylase)
M15V (p.Met15Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- rs1570467133
- ClinGen CA340137316
- ClinVar RCV000794526
- ClinVar RCV002332595
- Pathogenic/Likely pathogenic
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.26
- MetaLR 0.77
- MetaSVM 0.63
- PolyPhen-2 0.90
- SIFT 0.00
- MutPred 0.43
- ClinVar: Pathogenic/Likely pathogenic (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)