R53Q (p.Arg53Gln) variant of CHRNA4 (P43681)
R53Q (p.Arg53Gln) 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 0.73 / 1. The record also includes population frequency data and published literature.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs1286318558
- ClinGen CA409643548
- NCI-TCGA Cosmic COSV6471
- ClinVar RCV001887297
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.69
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)