L617S (p.Leu617Ser) variant of CACNA1A (O00555)
L617S (p.Leu617Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L617S (p.Leu617Ser) variant details
- p.Leu617Ser
- rs2145004155
- ClinGen CA404344850
- ClinVar RCV002227409
- Ensembl rs2145004155
- Likely pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.76
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- 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)