C30R (p.Cys30Arg) variant of HSD17B3 (P37058)
C30R (p.Cys30Arg) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- ExAC rs770504476
- TOPMed rs770504476
- gnomAD rs770504476
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available