R25C (p.Arg25Cys) variant of CHRNA4 (P43681)
R25C (p.Arg25Cys) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs2068812315
- ClinGen CA409644756
- ClinVar RCV001418435
- Ensembl rs2068812315
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)