L68V (p.Leu68Val) variant of CHRNA4 (P43681)
L68V (p.Leu68Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- Ensembl rs2068771710
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.45
- CADD 18.90
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)