T53I (p.Thr53Ile) variant of HSD3B2 (P26439)
T53I (p.Thr53Ile) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- gnomAD 1-119419433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.14
- MetaLR 0.19
- MetaSVM -0.84
- CADD 1.92
- PolyPhen-2 0.12
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available