L5R (p.Leu5Arg) variant of ATM (Serine-protein kinase ATM)
L5R (p.Leu5Arg) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- rs2135004293
- ClinGen CA382518980
- ClinVar RCV002389909
- ClinVar RCV003230745
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.74
- MetaLR 0.26
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.40
- 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)