L18R (p.Leu18Arg) variant of CHRNA4 (P43681)
L18R (p.Leu18Arg) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial sleep-related hypermotor epilepsy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- rs796052314
- ClinGen CA313538
- ClinVar RCV000186920
- ClinVar RCV005089937
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.55
- CADD 21.60
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)