R56H (p.Arg56His) variant of GABRA1 (P14867)
R56H (p.Arg56His) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 19; Epilepsy, idiopathic generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- rs2532205090
- ClinGen CA362181649
- ClinVar RCV002899536
- ClinVar RCV005869922
- Uncertain significance
- Developmental and epileptic encephalopathy, 19; Epilepsy, idiopathic generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.77
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 19; Epilepsy, idiopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available