E34Q (p.Glu34Gln) variant of MUTYH (Adenine DNA glycosylase)
E34Q (p.Glu34Gln) 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 0.50 / 1. The record also includes published literature and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs1557492431
- ClinGen CA340137126
- ClinVar RCV000772801
- ClinVar RCV001869087
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM -0.12
- PolyPhen-2 0.50
- SIFT 0.00
- MutPred 0.12
- 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)