P409L (p.Pro409Leu) variant of CYP17A1 (P05093)
P409L (p.Pro409Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P409L (p.Pro409Leu) variant details
- p.Pro409Leu
- rs367833709
- ClinGen CA5669370
- ClinVar RCV001377631
- ClinVar RCV003469628
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase; Cong)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available