I58M (p.Ile58Met) variant of CHRNA4 (P43681)
I58M (p.Ile58Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature.
I58M (p.Ile58Met) variant details
- p.Ile58Met
- rs2068772907
- ClinGen CA409643419
- ClinVar RCV001341800
- Ensembl rs2068772907
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.06
- PolyPhen-2 0.17
- SIFT 0.03
- EVE 0.38
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)