L40F (p.Leu40Phe) variant of CHRNA4 (P43681)
L40F (p.Leu40Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- rs1568819698
- ClinGen CA409643823
- ClinVar RCV001230238
- ClinVar RCV004774328
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.68
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)