Q4* (p.Gln4Ter) variant of SRD5A2 (P31213)
Q4* (p.Gln4Ter) in SRD5A2 (P31213) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs2465708830
- ClinGen CA346599293
- ClinVar RCV002465022
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available