G180D (p.Gly180Asp) variant of MUTYH (Adenine DNA glycosylase)
G180D (p.Gly180Asp) 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; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G180D (p.Gly180Asp) variant details
- p.Gly180Asp
- rs587781864
- ClinGen CA013822
- ClinVar RCV000130180
- ClinVar RCV000456187
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.95
- MetaLR 0.49
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Familial)
- 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)