F10Y (p.Phe10Tyr) variant of GABRB3 (P28472)
F10Y (p.Phe10Tyr) 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 0.37 / 1. The record also includes structural context.
F10Y (p.Phe10Tyr) variant details
- p.Phe10Tyr
- rs2140200011
- ClinGen CA391465658
- ClinVar RCV002295552
- ClinVar RCV004729148
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.12
- MetaLR 0.27
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.44
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available