G301E (p.Gly301Glu) variant of ATP1A2 (P50993)
G301E (p.Gly301Glu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hemiplegic migraine. The record also includes published literature and structural context.
G301E (p.Gly301Glu) variant details
- p.Gly301Glu
- rs2524865450
- ClinGen CA343238139
- ClinVar RCV002857265
- Likely pathogenic
- Familial hemiplegic migraine
- Missense
- ClinVar: Likely pathogenic (Familial hemiplegic migraine)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)