G60E (p.Gly60Glu) variant of HSD3B2 (P26439)
G60E (p.Gly60Glu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G60E (p.Gly60Glu) variant details
- p.Gly60Glu
- ESP rs141499927
- ExAC rs141499927
- TOPMed rs141499927
- gnomAD rs141499927
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.93
- MetaLR 0.84
- MetaSVM 0.90
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available