Q33R (p.Gln33Arg) variant of MUTYH (Adenine DNA glycosylase)
Q33R (p.Gln33Arg) 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 Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- rs863224701
- ClinGen CA340137130
- ClinVar RCV000566702
- ClinVar RCV001858117
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.06
- MetaLR 0.59
- MetaSVM -0.49
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.11
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Benign
- UniProt: Benign
- 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)