Y302C (p.Tyr302Cys) variant of GABRB3 (P28472)
Y302C (p.Tyr302Cys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
Y302C (p.Tyr302Cys) variant details
- p.Tyr302Cys
- rs1889966424
- ClinGen CA391462145
- ClinVar RCV001040961
- ClinVar RCV001311380
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.97
- MetaLR 0.78
- MetaSVM 0.75
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.49
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available