G5S (p.Gly5Ser) variant of CHRNA4 (P43681)
G5S (p.Gly5Ser) 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; Autosomal dominant nocturnal frontal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs1043176387
- ClinGen CA317447596
- ClinVar RCV001059426
- ClinVar RCV002489657
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- CADD 16.50
- PolyPhen-2 0.12
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; Autosomal dominant n)
- 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)