F45L (p.Phe45Leu) variant of CHRNA4 (P43681)
F45L (p.Phe45Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- rs766240756
- NCI-TCGA TCGA novel
- ClinGen CA409643743
- ClinVar RCV001230824
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.31
- CADD 25.30
- PolyPhen-2 0.22
- SIFT 0.05
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)