I58V (p.Ile58Val) variant of CHRNA4 (P43681)
I58V (p.Ile58Val) 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 0.28 / 1. The record also includes population frequency data and published literature.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- rs760044129
- ClinGen CA9957958
- ClinVar RCV001342112
- ExAC rs760044129
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)