D49E (p.Asp49Glu) variant of GABRB3 (P28472)
D49E (p.Asp49Glu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 43. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- rs557694936
- ClinGen CA391465382
- ClinVar RCV001034785
- ClinVar RCV006256226
- Pathogenic
- Developmental and epileptic encephalopathy, 43
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 43)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available