C5* (p.Cys5Ter) variant of HSD3B2 (P26439)
C5* (p.Cys5Ter) 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 0.67 / 1. The record also includes population frequency data and structural context.
C5* (p.Cys5Ter) variant details
- p.Cys5Ter
- rs766474996
- ClinGen CA1035860
- ClinVar RCV001390355
- ClinVar RCV001831404
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available