L18Q (p.Leu18Gln) variant of GABRB3 (P28472)
L18Q (p.Leu18Gln) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- rs2140199978
- ClinGen CA391465607
- ClinVar RCV001904109
- Ensembl rs2140199978
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available