L602R (p.Leu602Arg) variant of CACNA1A (O00555)
L602R (p.Leu602Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinocerebellar ataxia type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L602R (p.Leu602Arg) variant details
- p.Leu602Arg
- rs2057948232
- ClinGen CA404344947
- ClinVar RCV002508177
- UniProt VAR 089584
- Pathogenic
- Spinocerebellar ataxia type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Spinocerebellar ataxia type 6)
- EBI: Pathogenic (in EA2)
- UniProt: Pathogenic (in EA2)
- Structural context available
- Cited in: Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. (PMID 38221525)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)