V13E (p.Val13Glu) variant of VHL (P40337)
V13E (p.Val13Glu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The record also includes structural context.
V13E (p.Val13Glu) variant details
- p.Val13Glu
- TOPMed rs1553619289
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available