W8C (p.Trp8Cys) variant of VHL (P40337)
W8C (p.Trp8Cys) in VHL (P40337) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The record also includes structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- Ensembl rs2125124441
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- UniProt: Uncertain significance
- Structural context available