R179C (p.Arg179Cys) variant of MUTYH (Adenine DNA glycosylase)
R179C (p.Arg179Cys) 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 Hereditary cancer-predisposing syndrome; not provided; Pilomatrixoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R179C (p.Arg179Cys) variant details
- p.Arg179Cys
- rs747993448
- ClinGen CA013785
- cosmic curated COSV58343
- ClinVar RCV000166998
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Pilomatrixoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.84
- MetaLR 0.21
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Pilomatri)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (PMID 18091433)
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)