W406R (p.Trp406Arg) variant of CYP17A1 (P05093)
W406R (p.Trp406Arg) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W406R (p.Trp406Arg) variant details
- p.Trp406Arg
- rs104894143
- ClinGen CA115193
- ClinVar RCV000001870
- ClinVar RCV001851567
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.45
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17… (PMID 14671162)
- Cited in: Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase… (PMID 14715827)