R25H (p.Arg25His) variant of CHRNA4 (P43681)
R25H (p.Arg25His) 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 0.30 / 1. The record also includes population frequency data and published literature.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs1262817628
- ClinGen CA409644752
- ClinVar RCV003746140
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)