Y82C (p.Tyr82Cys) variant of GABRB3 (P28472)
Y82C (p.Tyr82Cys) 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 0.85 / 1. The record also includes structural context.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- rs1892483792
- ClinGen CA391461846
- ClinVar RCV001349445
- Ensembl rs1892483792
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available