D94E (p.Asp94Glu) variant of GABRB3 (P28472)
D94E (p.Asp94Glu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child. 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.
D94E (p.Asp94Glu) variant details
- p.Asp94Glu
- rs2140537278
- ClinGen CA391461463
- ClinVar RCV001776951
- ClinVar RCV001885139
- Uncertain significance
- not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.90
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Epilepsy, childhood absence, susceptibility to, 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available