Q140* (p.Gln140Ter) variant of CYP17A1 (P05093)
Q140* (p.Gln140Ter) in CYP17A1 (P05093) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q140* (p.Gln140Ter) variant details
- p.Gln140Ter
- rs2493243005
- ClinVar RCV004575750
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available