R33Q (p.Arg33Gln) variant of CHRNA4 (P43681)
R33Q (p.Arg33Gln) 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 0.25 / 1. The record also includes population frequency data.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs201575409
- NCI-TCGA Cosmic COSV1009
- 1000Genomes rs201575409
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)