Q45R (p.Gln45Arg) variant of MUTYH (Adenine DNA glycosylase)
Q45R (p.Gln45Arg) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs1557491929
- ClinGen CA340137003
- ClinVar RCV000700034
- ClinVar RCV001011004
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.06
- MetaLR 0.62
- MetaSVM -0.15
- PolyPhen-2 0.83
- SIFT 0.57
- MutPred 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)