Y62H (p.Tyr62His) variant of CACNA1A (O00555)
Y62H (p.Tyr62His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Migraine, familial hemiplegic, 1; Episodic ataxia type 2; Developmental and epil. The record also includes published literature and structural context.
Y62H (p.Tyr62His) variant details
- p.Tyr62His
- rs2513709042
- ClinGen CA404971025
- ClinVar RCV002801531
- ClinVar RCV006254342
- Likely pathogenic
- Migraine, familial hemiplegic, 1; Episodic ataxia type 2; Developmental and epil
- Missense
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 1; Episodic ataxia type 2; Develo)
- 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)