D49N (p.Asp49Asn) variant of GABRB3 (P28472)
D49N (p.Asp49Asn) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.73 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- rs2504095089
- ClinGen CA391465389
- ClinVar RCV003785346
- Uncertain significance
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.73
- CADD 28.20
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available