E57* (p.Glu57Ter) variant of SRD5A2 (P31213)
E57* (p.Glu57Ter) in SRD5A2 (P31213) 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 0.87 / 1. The record also includes structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- rs750444774
- ClinGen CA346598976
- ClinVar RCV001726692
- ClinVar RCV001726693
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.87
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available