T157M (p.Thr157Met) variant of GABRB3 (P28472)
T157M (p.Thr157Met) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T157M (p.Thr157Met) variant details
- p.Thr157Met
- rs2140737885
- ClinGen CA391458132
- ClinVar RCV001982994
- NCI-TCGA TCGA novel
- Pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic (in DEE43)
- UniProt: Pathogenic (in DEE43)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (PMID 27476654)
- Cited in: De novo mutations in epileptic encephalopathies. (PMID 23934111)