R13L (p.Arg13Leu) variant of ATM (Serine-protein kinase ATM)
R13L (p.Arg13Leu) 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 0.34 / 1. The record also includes published literature and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- rs778201041
- ClinGen CA382519104
- ClinVar RCV000566546
- ClinVar RCV003500545
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.87
- PolyPhen-2 0.02
- SIFT 0.18
- EVE 0.17
- 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)