L5V (p.Leu5Val) variant of ATM (Serine-protein kinase ATM)
L5V (p.Leu5Val) 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.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs2078805774
- ClinGen CA382518964
- ClinVar RCV001368983
- ClinVar RCV004800996
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.41
- MetaLR 0.25
- MetaSVM -0.60
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)