A5G (p.Ala5Gly) variant of VHL (P40337)
A5G (p.Ala5Gly) 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.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- ExAC rs755333116
- TOPMed rs755333116
- gnomAD rs755333116
- 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