F56S (p.Phe56Ser) variant of GABRB3 (P28472)
F56S (p.Phe56Ser) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
F56S (p.Phe56Ser) variant details
- p.Phe56Ser
- rs1891185887
- ClinGen CA391465339
- ClinVar RCV001231649
- Ensembl rs1891185887
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.03
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available