E6K (p.Glu6Lys) variant of VHL (P40337)
E6K (p.Glu6Lys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- 1000Genomes rs545406510
- ExAC rs545406510
- gnomAD rs545406510
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available