L8R (p.Leu8Arg) variant of ATM (Serine-protein kinase ATM)
L8R (p.Leu8Arg) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs1555053885
- ClinGen CA382519032
- ClinVar RCV000575540
- ClinVar RCV002529020
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.98
- MetaLR 0.39
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- EBI: Likely benign
- UniProt: Likely benign
- 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)