R68L (p.Arg68Leu) variant of CACNA1A (O00555)
R68L (p.Arg68Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
R68L (p.Arg68Leu) variant details
- p.Arg68Leu
- rs576099495
- ClinGen CA404970983
- ClinVar RCV003333361
- Likely pathogenic
- Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.84
- MetaLR 0.12
- MetaSVM -0.82
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Likely pathogenic (Episodic ataxia type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)