K69E (p.Lys69Glu) variant of HSD3B2 (P26439)
K69E (p.Lys69Glu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- gnomAD 1-119419480-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.89
- CADD 4.44
- PolyPhen-2 0.31
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available