P414L (p.Pro414Leu) variant of CYP17A1 (P05093)
P414L (p.Pro414Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
P414L (p.Pro414Leu) variant details
- p.Pro414Leu
- rs1554879846
- ClinGen CA377938402
- ClinVar RCV000500014
- TOPMed rs1554879846
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available