S58T (p.Ser58Thr) variant of ATP1A2 (P50993)
S58T (p.Ser58Thr) 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. The record also includes published literature and structural context.
S58T (p.Ser58Thr) variant details
- p.Ser58Thr
- rs2524849522
- ClinGen CA343228940
- ClinVar RCV003587774
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)