E38G (p.Glu38Gly) variant of CHRNA4 (P43681)
E38G (p.Glu38Gly) 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 0.39 / 1. The record also includes population frequency data and published literature.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- rs756100070
- ClinGen CA409643848
- ClinVar RCV002180824
- ExAC rs756100070
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.24
- CADD 33.00
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)