R39Q (p.Arg39Gln) variant of CHRNA4 (P43681)
R39Q (p.Arg39Gln) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs1412355004
- ClinGen CA409643834
- ClinVar RCV001354895
- ClinVar RCV002547597
- Uncertain significance
- Inborn genetic diseases; Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 28.00
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial sleep-related hypermotor epile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)