L46F (p.Leu46Phe) variant of GABRA1 (P14867)
L46F (p.Leu46Phe) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The record also includes structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- rs2532204992
- ClinGen CA362181582
- ClinVar RCV003014338
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available