G19D (p.Gly19Asp) variant of VHL (P40337)
G19D (p.Gly19Asp) in VHL (P40337) 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.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- Ensembl rs2125124549
- 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