L58P (p.Leu58Pro) variant of HSD3B2 (P26439)
L58P (p.Leu58Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- TOPMed rs1393706800
- gnomAD rs1393706800
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.82
- MetaLR 0.77
- MetaSVM 0.67
- CADD 24.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available