A56V (p.Ala56Val) variant of CHRNA4 (P43681)
A56V (p.Ala56Val) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- NCI-TCGA Cosmic COSV6471
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- UniProt: Uncertain significance