I275F (p.Ile275Phe) variant of CHRNA4 (P43681)
I275F (p.Ile275Phe) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial sleep-related hypermotor epilepsy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
I275F (p.Ile275Phe) variant details
- p.Ile275Phe
- rs1555837911
- ClinGen CA409636591
- ClinVar RCV001568455
- ClinVar RCV005094799
- Likely pathogenic
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.78
- MetaLR 0.69
- MetaSVM 0.31
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)