G47S (p.Gly47Ser) variant of CHRNA4 (P43681)
G47S (p.Gly47Ser) 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.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs750423296
- ClinGen CA9957964
- ClinVar RCV003747624
- ExAC rs750423296
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.15
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)