R10P (p.Arg10Pro) variant of MUTYH (Adenine DNA glycosylase)
R10P (p.Arg10Pro) 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; Hereditary cancer-predisposing syndrome; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- rs755928199
- ClinGen CA089469
- ClinVar RCV000581823
- ClinVar RCV001065926
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 13.70
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)