P331A (p.Pro331Ala) variant of ATP1A2 (P50993)
P331A (p.Pro331Ala) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemiplegic migraine. The record also includes published literature and structural context.
P331A (p.Pro331Ala) variant details
- p.Pro331Ala
- rs2524865640
- ClinGen CA343238762
- ClinVar RCV002838028
- Pathogenic
- Familial hemiplegic migraine
- Missense
- ClinVar: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)