H82D (p.His82Asp) variant of MUTYH (Adenine DNA glycosylase)
H82D (p.His82Asp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
H82D (p.His82Asp) variant details
- p.His82Asp
- rs1645370714
- ClinGen CA340136519
- ClinVar RCV002280919
- Likely pathogenic
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.34
- MetaLR 0.21
- MetaSVM -0.69
- PolyPhen-2 0.41
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)