S284L (p.Ser284Leu) variant of CHRNA4 (P43681)
S284L (p.Ser284Leu) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S284L (p.Ser284Leu) variant details
- p.Ser284Leu
- rs28931591
- ClinGen CA313555
- NCI-TCGA Cosmic COSV6471
- cosmic curated COSV64718
- Pathogenic
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (PMID 10563623)
- Cited in: A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (PMID 14623738)