R65H (p.Arg65His) variant of CHRNA4 (P43681)
R65H (p.Arg65His) 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 0.25 / 1. The record also includes population frequency data and published literature.
R65H (p.Arg65His) variant details
- p.Arg65His
- rs200867143
- ClinGen CA9957949
- ClinVar RCV001060724
- 1000Genomes rs200867143
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)