T156I (p.Thr156Ile) variant of GABRB3 (P28472)
T156I (p.Thr156Ile) 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 0.82 / 1. The record also includes population frequency data and structural context.
T156I (p.Thr156Ile) variant details
- p.Thr156Ile
- rs78196007
- ClinGen CA268157134
- ClinVar RCV003794273
- Ensembl rs78196007
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.88
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.62
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available