L12P (p.Leu12Pro) variant of CHRNA4 (P43681)
L12P (p.Leu12Pro) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial sleep-related hypermotor epilepsy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs1060503516
- ClinGen CA16616249
- ClinVar RCV000464089
- ClinVar RCV001290671
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.34
- CADD 7.41
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)