T288A (p.Thr288Ala) variant of GABRB3 (P28472)
T288A (p.Thr288Ala) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.76 / 1. The record also includes structural context.
T288A (p.Thr288Ala) variant details
- p.Thr288Ala
- rs1595440443
- ClinGen CA391462325
- ClinVar RCV000995277
- ClinVar RCV002549904
- Conflicting interpretations
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available