E19G (p.Glu19Gly) variant of RB1 (P06400)
E19G (p.Glu19Gly) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- Ensembl rs2138027431
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available