T1512A (p.Thr1512Ala) variant of CACNA1A (O00555)
T1512A (p.Thr1512Ala) 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. The record also includes published literature and structural context.
T1512A (p.Thr1512Ala) variant details
- p.Thr1512Ala
- rs2512740838
- ClinGen CA404338846
- ClinVar RCV003224932
- Likely pathogenic
- Migraine, familial hemiplegic, 1
- Missense
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)