D49G (p.Asp49Gly) variant of GABRB3 (P28472)
D49G (p.Asp49Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D49G (p.Asp49Gly) variant details
- p.Asp49Gly
- rs2140199587
- ClinGen CA391465385
- ClinVar RCV002249048
- Ensembl rs2140199587
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available