P103S (p.Pro103Ser) variant of GABRB3 (P28472)
P103S (p.Pro103Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
P103S (p.Pro103Ser) variant details
- p.Pro103Ser
- rs267604145
- ClinGen CA268161502
- ClinVar RCV001867143
- TOPMed rs267604145
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available