Q16K (p.Gln16Lys) variant of HSD3B2 (P26439)
Q16K (p.Gln16Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- gnomAD 1-119415465-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.65
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available