Y99C (p.Tyr99Cys) variant of GABRB3 (P28472)
Y99C (p.Tyr99Cys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
Y99C (p.Tyr99Cys) variant details
- p.Tyr99Cys
- rs1566778864
- ClinGen CA391461320
- cosmic curated COSV10588
- ClinVar RCV000697686
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.95
- MetaLR 0.72
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Epilepsy, childhood absence, susceptibi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available