E38V (p.Glu38Val) variant of CHRNA4 (P43681)
E38V (p.Glu38Val) 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 0.43 / 1. The record also includes population frequency data and published literature.
E38V (p.Glu38Val) variant details
- p.Glu38Val
- rs756100070
- ClinGen CA9957968
- ClinVar RCV001313971
- ExAC rs756100070
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.33
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)