A26G (p.Ala26Gly) variant of CHRNA4 (P43681)
A26G (p.Ala26Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
A26G (p.Ala26Gly) variant details
- p.Ala26Gly
- ExAC rs761362001
- TOPMed rs761362001
- gnomAD rs761362001
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.17
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)