S254Y (p.Ser254Tyr) variant of GABRB3 (P28472)
S254Y (p.Ser254Tyr) 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, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
S254Y (p.Ser254Tyr) variant details
- p.Ser254Tyr
- rs1057519549
- ClinGen CA391463224
- ClinVar RCV001379623
- Ensembl rs1057519549
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Pathogenic (in DEE43)
- UniProt: Pathogenic (in DEE43)
- Structural context available