R19Q (p.Arg19Gln) variant of MUTYH (Adenine DNA glycosylase)
R19Q (p.Arg19Gln) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs587780081
- ClinGen CA011787
- ClinVar RCV000115752
- ClinVar RCV000212697
- Conflicting interpretations
- Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM -0.38
- PolyPhen-2 0.23
- SIFT 0.18
- MutPred 0.31
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Gastric cancer; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)