R3L (p.Arg3Leu) variant of VHL (P40337)
R3L (p.Arg3Leu) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- TOPMed rs1178481595
- gnomAD rs1178481595
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available