F51S (p.Phe51Ser) variant of GJB1 (Gap junction beta-1 protein)
F51S (p.Phe51Ser) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
F51S (p.Phe51Ser) variant details
- p.Phe51Ser
- rs1602348850
- ClinGen CA413501163
- ClinVar RCV001027526
- Ensembl rs1602348850
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available