G35R (p.Gly35Arg) variant of MUTYH (Adenine DNA glycosylase)
G35R (p.Gly35Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- rs876658745
- ClinGen CA10577750
- ClinVar RCV000213765
- ClinVar RCV000456712
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.92
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)