A25T (p.Ala25Thr) variant of GABRB3 (P28472)
A25T (p.Ala25Thr) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.36 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs1448726231
- ClinGen CA391465564
- ClinVar RCV001422318
- TOPMed rs1448726231
- Likely benign
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available