S14F (p.Ser14Phe) variant of GABRB3 (P28472)
S14F (p.Ser14Phe) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs121913126
- Conflicting interpretations
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 15.10
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- UniProt: Conflicting interpretations (in ECA5, the mutant protein is hyperglycosylated and has reduced)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PMID 18514161)