E92Q (p.Glu92Gln) variant of CHRNA4 (P43681)
E92Q (p.Glu92Gln) 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; Inborn genetic diseases; Autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
E92Q (p.Glu92Gln) variant details
- p.Glu92Gln
- rs146651027
- ClinGen CA313605
- ClinVar RCV000186963
- ClinVar RCV000477750
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; Autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.64
- CADD 28.60
- PolyPhen-2 0.54
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.012)
- 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)