P253H (p.Pro253His) variant of GABRB3 (P28472)
P253H (p.Pro253His) 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 0.98 / 1. The record also includes structural context.
P253H (p.Pro253His) variant details
- p.Pro253His
- rs1064796514
- ClinGen CA391463228
- ClinVar RCV000706365
- Ensembl rs1064796514
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available