R106P (p.Arg106Pro) variant of MUTYH (Adenine DNA glycosylase)
R106P (p.Arg106Pro) 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 not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R106P (p.Arg106Pro) variant details
- p.Arg106Pro
- rs761763725
- ClinGen CA057382
- ClinVar RCV000532016
- ClinVar RCV001019554
- Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.31
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)