L68M (p.Leu68Met) variant of HSD3B2 (P26439)
L68M (p.Leu68Met) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L68M (p.Leu68Met) variant details
- p.Leu68Met
- ESP rs138340684
- TOPMed rs138340684
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.39
- MetaLR 0.52
- MetaSVM -0.31
- CADD 12.50
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available