S59L (p.Ser59Leu) variant of CHRNA4 (P43681)
S59L (p.Ser59Leu) 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 0.55 / 1. The record also includes population frequency data and published literature.
S59L (p.Ser59Leu) variant details
- p.Ser59Leu
- rs775143571
- ClinGen CA9957957
- ClinVar RCV000700450
- ClinVar RCV002510964
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- CADD 26.10
- PolyPhen-2 0.90
- 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 South Asian population (allele frequency 0.00021)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)