G7R (p.Gly7Arg) variant of CHRNA4 (P43681)
G7R (p.Gly7Arg) 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 0.32 / 1. The record also includes population frequency data and published literature.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs1330177627
- ClinGen CA409645001
- ClinVar RCV003746774
- gnomAD rs1330177627
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.34
- CADD 17.70
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)