D30A (p.Asp30Ala) variant of GABRB3 (P28472)
D30A (p.Asp30Ala) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D30A (p.Asp30Ala) variant details
- p.Asp30Ala
- rs2504095267
- ClinGen CA391465514
- ClinVar RCV003810433
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.27
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available