P428L (p.Pro428Leu) variant of CYP17A1 (P05093)
P428L (p.Pro428Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P428L (p.Pro428Leu) variant details
- p.Pro428Leu
- rs104894145
- ClinGen CA115195
- ClinVar RCV000001872
- ClinVar RCV001220851
- Pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.64
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17… (PMID 14671162)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)