L58I (p.Leu58Ile) variant of HSD3B2 (P26439)
L58I (p.Leu58Ile) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L58I (p.Leu58Ile) variant details
- p.Leu58Ile
- gnomAD 1-119419447-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.91
- CADD 8.77
- PolyPhen-2 0.05
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available