E38* (p.Glu38Ter) variant of SRD5A2 (P31213)
E38* (p.Glu38Ter) in SRD5A2 (P31213) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- TOPMed rs1347898502
- gnomAD rs1347898502
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 32.00
- Population evidence available
- Structural context available