K299Q (p.Lys299Gln) variant of GABRB3 (P28472)
K299Q (p.Lys299Gln) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.61 / 1. The record also includes structural context.
K299Q (p.Lys299Gln) variant details
- p.Lys299Gln
- rs1567106381
- ClinGen CA391462195
- ClinVar RCV000706288
- Ensembl rs1567106381
- Pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.88
- MetaLR 0.67
- MetaSVM 0.45
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.23
- ClinVar: Pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available