R96W (p.Arg96Trp) variant of CYP17A1 (P05093)
R96W (p.Arg96Trp) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Differences in sex development; not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R96W (p.Arg96Trp) variant details
- p.Arg96Trp
- rs104894138
- ClinGen CA115183
- cosmic curated COSV64004
- ClinVar RCV000001858
- Pathogenic/Likely pathogenic
- Differences in sex development; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Differences in sex development; not provided; Congenital adrenal)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)
- Cited in: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17… (PMID 14671162)