R10L (p.Arg10Leu) variant of CHRNA4 (P43681)
R10L (p.Arg10Leu) 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 0.13 / 1. The record also includes population frequency data and published literature.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- rs2516580169
- ClinGen CA2739277232
- ClinVar RCV003747120
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.14
- CADD 6.67
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)