P13L (p.Pro13Leu) variant of CHRNA4 (P43681)
P13L (p.Pro13Leu) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs796052313
- ClinGen CA409644897
- ClinVar RCV003746693
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.09
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)