N57S (p.Asn57Ser) variant of CHRNA4 (P43681)
N57S (p.Asn57Ser) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- rs2145408343
- ClinGen CA409643444
- ClinVar RCV002214235
- ClinVar RCV006470234
- Uncertain significance
- not provided; Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.12
- MetaLR 0.22
- MetaSVM -0.61
- PolyPhen-2 0.95
- SIFT 0.03
- EVE 0.34
- ClinVar: Uncertain significance (not provided; Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)