T185P (p.Thr185Pro) variant of GABRB3 (P28472)
T185P (p.Thr185Pro) 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 0.47 / 1. The record also includes structural context.
T185P (p.Thr185Pro) variant details
- p.Thr185Pro
- rs1890748867
- ClinGen CA391464231
- ClinVar RCV001217381
- Ensembl rs1890748867
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.86
- MetaLR 0.43
- MetaSVM -0.23
- PolyPhen-2 0.61
- SIFT 0.03
- EVE 0.34
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available