R99C (p.Arg99Cys) variant of CHRNA4 (P43681)
R99C (p.Arg99Cys) 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 0.55 / 1. The record also includes population frequency data and published literature.
R99C (p.Arg99Cys) variant details
- p.Arg99Cys
- rs201160663
- ClinGen CA9957875
- ClinVar RCV003746847
- ExAC rs201160663
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.64
- CADD 25.60
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)