S27R (p.Ser27Arg) variant of CHRNA4 (P43681)
S27R (p.Ser27Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- rs1211831892
- ClinGen CA409644087
- ClinVar RCV001769253
- ClinVar RCV003583199
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)