C437Y (p.Cys437Tyr) variant of CYP19A1 (Aromatase)
C437Y (p.Cys437Tyr) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C437Y (p.Cys437Tyr) variant details
- p.Cys437Tyr
- rs78310315
- ClinGen CA127456
- ClinVar RCV000019394
- UniProt VAR 016965
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- EBI: Pathogenic (in AROD)
- UniProt: Pathogenic (in AROD)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. (PMID 8265607)
- Cited in: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn… (PMID 24705274)