Q54K (p.Gln54Lys) variant of ATP1A2 (P50993)
Q54K (p.Gln54Lys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine; Developmental and epileptic encephalopathy 98. The record also includes published literature and structural context.
Q54K (p.Gln54Lys) variant details
- p.Gln54Lys
- rs2524849489
- ClinGen CA343228791
- ClinVar RCV003746722
- ClinVar RCV004723395
- Uncertain significance
- Familial hemiplegic migraine; Developmental and epileptic encephalopathy 98
- Missense
- ClinVar: Uncertain significance (Familial hemiplegic migraine; Developmental and epileptic enceph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)