T53N (p.Thr53Asn) variant of HSD3B2 (P26439)
T53N (p.Thr53Asn) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T53N (p.Thr53Asn) variant details
- p.Thr53Asn
- gnomAD 1-119419433-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.26
- MetaLR 0.50
- MetaSVM -0.34
- CADD 13.40
- PolyPhen-2 0.91
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available