L15R (p.Leu15Arg) variant of CHRNA4 (P43681)
L15R (p.Leu15Arg) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- 1000Genomes rs886044055
- TOPMed rs886044055
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance