L433S (p.Leu433Ser) variant of CYP17A1 (P05093)
L433S (p.Leu433Ser) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar 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 0.75 / 1. The record also includes population frequency data and structural context.
L433S (p.Leu433Ser) variant details
- p.Leu433Ser
- TOPMed rs1844079273
- gnomAD rs1844079273
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available