E2Q (p.Glu2Gln) variant of CHRNA4 (P43681)
E2Q (p.Glu2Gln) 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 0.38 / 1. The record also includes published literature.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs2145412501
- ClinGen CA409645080
- ClinVar RCV001923138
- Ensembl rs2145412501
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.12
- MetaLR 0.24
- MetaSVM -0.85
- PolyPhen-2 0.20
- SIFT 0.04
- MutPred 0.14
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)