R10S (p.Arg10Ser) variant of MUTYH (Adenine DNA glycosylase)
R10S (p.Arg10Ser) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- rs1570591700
- ClinGen CA340137851
- ClinVar RCV001016909
- Ensembl rs1570591700
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -0.95
- CADD 6.03
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)