R10H (p.Arg10His) variant of MUTYH (Adenine DNA glycosylase)
R10H (p.Arg10His) 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 Hereditary cancer-predisposing syndrome; not specified; Familial adenomatous pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs755928199
- ClinGen CA089468
- ClinVar RCV000527208
- ClinVar RCV000565975
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Familial adenomatous pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 12.70
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)