L34W (p.Leu34Trp) variant of HSD3B2 (P26439)
L34W (p.Leu34Trp) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L34W (p.Leu34Trp) variant details
- p.Leu34Trp
- gnomAD 1-119415516-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available