Y62N (p.Tyr62Asn) variant of CACNA1A (O00555)
Y62N (p.Tyr62Asn) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The record also includes published literature and structural context.
Y62N (p.Tyr62Asn) variant details
- p.Tyr62Asn
- rs2513709042
- ClinGen CA404971026
- ClinVar RCV002853067
- Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- ClinVar: Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- 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)