H39Y (p.His39Tyr) variant of MUTYH (Adenine DNA glycosylase)
H39Y (p.His39Tyr) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H39Y (p.His39Tyr) variant details
- p.His39Tyr
- rs1553131429
- ClinGen CA340137081
- ClinVar RCV000572882
- ClinVar RCV003505121
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.07
- MetaLR 0.54
- MetaSVM -0.35
- PolyPhen-2 0.48
- SIFT 0.23
- MutPred 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: Benign
- 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)