T156N (p.Thr156Asn) variant of GABRB3 (P28472)
T156N (p.Thr156Asn) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.76 / 1. The record also includes structural context.
T156N (p.Thr156Asn) variant details
- p.Thr156Asn
- rs78196007
- ClinGen CA391458139
- ClinVar RCV001061473
- Ensembl rs78196007
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available