R111Q (p.Arg111Gln) variant of GABRB3 (P28472)
R111Q (p.Arg111Gln) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R111Q (p.Arg111Gln) variant details
- p.Arg111Gln
- rs777756010
- ClinGen CA7437464
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.70
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available