L22W (p.Leu22Trp) variant of HSD3B2 (P26439)
L22W (p.Leu22Trp) 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.
L22W (p.Leu22Trp) variant details
- p.Leu22Trp
- gnomAD rs1331864909
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.77
- MetaLR 0.90
- MetaSVM 0.98
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available