R36S (p.Arg36Ser) variant of MUTYH (Adenine DNA glycosylase)
R36S (p.Arg36Ser) 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 0.47 / 1. The record also includes published literature and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- rs1553131446
- ClinGen CA340137108
- ClinVar RCV000565376
- Ensembl rs1553131446
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.14
- MetaLR 0.56
- MetaSVM -0.50
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)