R106G (p.Arg106Gly) variant of MUTYH (Adenine DNA glycosylase)
R106G (p.Arg106Gly) 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 Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- rs765123255
- ClinGen CA340136374
- ClinVar RCV001052961
- ClinVar RCV004649433
- Likely pathogenic
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.30
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)