P40Q (p.Pro40Gln) variant of HSD3B2 (P26439)
P40Q (p.Pro40Gln) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P40Q (p.Pro40Gln) variant details
- p.Pro40Gln
- gnomAD 1-119415538-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.36
- MetaLR 0.63
- MetaSVM -0.08
- CADD 14.30
- PolyPhen-2 0.29
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available