R33W (p.Arg33Trp) variant of CHRNA4 (P43681)
R33W (p.Arg33Trp) 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 0.46 / 1. The record also includes population frequency data and published literature.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs370553755
- ClinGen CA9957974
- ClinVar RCV001068619
- ESP rs370553755
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.59
- SIFT 0.06
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)