R244G (p.Arg244Gly) variant of MUTYH (Adenine DNA glycosylase)
R244G (p.Arg244Gly) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
R244G (p.Arg244Gly) variant details
- p.Arg244Gly
- rs587782885
- ClinGen CA340134841
- ClinVar RCV000767386
- ClinVar RCV002386286
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.39
- MetaLR 0.55
- MetaSVM -0.05
- PolyPhen-2 0.19
- SIFT 0.01
- EVE 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese… (PMID 26694661)
- Cited in: MUTYH Polyposis. (PMID 23035301)