R19G (p.Arg19Gly) variant of MUTYH (Adenine DNA glycosylase)
R19G (p.Arg19Gly) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs587780088
- ClinGen CA056632
- ClinVar RCV000467752
- ClinVar RCV003168772
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.27
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.34
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- 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)