E37Q (p.Glu37Gln) variant of CHRNA4 (P43681)
E37Q (p.Glu37Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs778087682
- ClinGen CA409643886
- ClinVar RCV002795351
- ClinVar RCV005535423
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.76
- MetaLR 0.46
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.94
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)