T40A (p.Thr40Ala) variant of GABRB3 (P28472)
T40A (p.Thr40Ala) 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 0.53 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs1426593784
- ClinGen CA391465447
- ClinVar RCV003783409
- gnomAD rs1426593784
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.52
- CADD 24.50
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available