W3* (p.Trp3Ter) variant of HSD3B2 (P26439)
W3* (p.Trp3Ter) in HSD3B2 (P26439) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
W3* (p.Trp3Ter) variant details
- p.Trp3Ter
- rs765335418
- cosmic curated COSV65593
- ClinGen CA341394018
- ClinVar RCV001217332
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.59
- MetaLR 0.43
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.49
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available