Y329D (p.Tyr329Asp) variant of CYP17A1 (P05093)
Y329D (p.Tyr329Asp) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y329D (p.Tyr329Asp) variant details
- p.Tyr329Asp
- rs104894144
- ClinGen CA115194
- ClinVar RCV000001871
- UniProt VAR 022750
- Pathogenic
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Pathogenic (17-alpha-hydroxylase/17,20-lyase deficiency, combined complete)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)