E38Q (p.Glu38Gln) variant of CHRNA4 (P43681)
E38Q (p.Glu38Gln) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial sleep-related hypermotor epilepsy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- rs1428100117
- ClinGen CA409643859
- ClinVar RCV001214676
- ClinVar RCV005241436
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.17
- CADD 25.70
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)