R65C (p.Arg65Cys) variant of CHRNA4 (P43681)
R65C (p.Arg65Cys) 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 0.50 / 1. The record also includes population frequency data and published literature.
R65C (p.Arg65Cys) variant details
- p.Arg65Cys
- rs748440038
- ClinGen CA9957950
- ClinVar RCV000654303
- ExAC rs748440038
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.45
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)