E17* (p.Glu17Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
E17* (p.Glu17Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- TOPMed rs867569502
- gnomAD rs867569502
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available