G7E (p.Gly7Glu) variant of CHRNA4 (P43681)
G7E (p.Gly7Glu) 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 0.39 / 1. The record also includes population frequency data and published literature.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- rs1025632281
- ClinGen CA409644990
- ClinVar RCV003746314
- TOPMed rs1025632281
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.07
- 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 1.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)