L1344P (p.Leu1344Pro) variant of CACNA1A (O00555)
L1344P (p.Leu1344Pro) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CACNA1A-associated disorder; Spinocerebellar ataxia type 6; Episodic ataxia type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L1344P (p.Leu1344Pro) variant details
- p.Leu1344Pro
- rs2144773045
- ClinGen CA404340020
- ClinVar RCV002227403
- ClinVar RCV003234171
- Pathogenic/Likely pathogenic
- CACNA1A-associated disorder; Spinocerebellar ataxia type 6; Episodic ataxia type
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.75
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (CACNA1A-associated disorder; Spinocerebellar ataxia type 6; Epis)
- EBI: Pathogenic
- UniProt: 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)