R20G (p.Arg20Gly) variant of HSD3B2 (P26439)
R20G (p.Arg20Gly) in HSD3B2 (P26439) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- ESP rs139191056
- ExAC rs139191056
- TOPMed rs139191056
- gnomAD rs139191056
- Uncertain significance
- Missense
- MetaLR 0.52
- MetaSVM -0.28
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available