P434L (p.Pro434Leu) variant of CYP17A1 (P05093)
P434L (p.Pro434Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase. The record also includes structural context.
P434L (p.Pro434Leu) variant details
- p.Pro434Leu
- rs2493234394
- ClinGen CA377938264
- ClinVar RCV003468632
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available