G67S (p.Gly67Ser) variant of CHRNA4 (P43681)
G67S (p.Gly67Ser) 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 0.69 / 1. The record also includes population frequency data and published literature.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- rs750325388
- ClinGen CA9957945
- ClinVar RCV000762353
- ClinVar RCV002533903
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)