D73H (p.Asp73His) variant of GABRB3 (P28472)
D73H (p.Asp73His) 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 0.78 / 1. The record also includes population frequency data and structural context.
D73H (p.Asp73His) variant details
- p.Asp73His
- rs768859258
- ClinGen CA16614336
- ClinVar RCV000465465
- TOPMed rs768859258
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.80
- CADD 28.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available