R10G (p.Arg10Gly) variant of CHRNA4 (P43681)
R10G (p.Arg10Gly) 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 0.35 / 1. The record also includes published literature.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs2068813671
- ClinGen CA409644949
- ClinVar RCV001891475
- TOPMed rs2068813671
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.92
- PolyPhen-2 0.02
- SIFT 0.14
- MutPred 0.30
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)