P102L (p.Pro102Leu) variant of CHRNA4 (P43681)
P102L (p.Pro102Leu) 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 0.74 / 1. The record also includes population frequency data and published literature.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- rs759593635
- ClinGen CA9957873
- ClinVar RCV001325675
- ExAC rs759593635
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.72
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)