T40M (p.Thr40Met) variant of GABRB3 (P28472)
T40M (p.Thr40Met) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- rs1178513934
- ClinGen CA391465443
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.76
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available