L15P (p.Leu15Pro) variant of CHRNA4 (P43681)
L15P (p.Leu15Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs886044055
- ClinGen CA10606290
- ClinVar RCV000325560
- ClinVar RCV001850435
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.53
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)