F66L (p.Phe66Leu) variant of CHRNA4 (P43681)
F66L (p.Phe66Leu) 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; Autosomal dominant nocturnal frontal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- rs201018244
- TOPMed rs201018244
- gnomAD rs201018244
- ClinGen CA317445927
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.49
- CADD 17.40
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Autosomal dominant n)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)