H39R (p.His39Arg) variant of MUTYH (Adenine DNA glycosylase)
H39R (p.His39Arg) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
H39R (p.His39Arg) variant details
- p.His39Arg
- rs2149187814
- ClinGen CA340137078
- ClinVar RCV001878321
- Ensembl rs2149187814
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.05
- MetaLR 0.50
- MetaSVM -0.37
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.18
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- 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)