R7H (p.Arg7His) variant of MUTYH (Adenine DNA glycosylase)
R7H (p.Arg7His) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs1114167687
- ClinGen CA340137873
- ClinVar RCV002048722
- Ensembl rs1114167687
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.01
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)