S280F (p.Ser280Phe) variant of CHRNA4 (P43681)
S280F (p.Ser280Phe) 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; not provided; Autosomal dominant noc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
S280F (p.Ser280Phe) variant details
- p.Ser280Phe
- rs121909580
- ClinGen CA341465
- NCI-TCGA Cosmic COSV6471
- cosmic curated COSV64718
- Pathogenic
- Familial sleep-related hypermotor epilepsy; not provided; Autosomal dominant noc
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.74
- MetaLR 0.63
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Familial sleep-related hypermotor epilepsy; not provided; Autoso)
- EBI: Pathogenic (in ENFL1)
- UniProt: Pathogenic (in ENFL1)
- Structural context available
- Cited in: Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. (PMID 10448807)
- Cited in: Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (PMID 18685138)