L4V (p.Leu4Val) variant of MUTYH (Adenine DNA glycosylase)
L4V (p.Leu4Val) 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 0.30 / 1. The record also includes published literature and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs587782404
- ClinGen CA012116
- ClinVar RCV000131438
- TOPMed rs587782404
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- PolyPhen-2 0.04
- SIFT 0.09
- MutPred 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)