L61P (p.Leu61Pro) variant of CACNA1A (O00555)
L61P (p.Leu61Pro) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2. The record also includes published literature and structural context.
L61P (p.Leu61Pro) variant details
- p.Leu61Pro
- rs2513709063
- ClinGen CA404971028
- ClinVar RCV003333573
- Uncertain significance
- Episodic ataxia type 2
- Missense
- ClinVar: Uncertain significance (Episodic ataxia type 2)
- 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)