R192H (p.Arg192His) variant of CYP19A1 (Aromatase)
R192H (p.Arg192His) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R192H (p.Arg192His) variant details
- p.Arg192His
- rs765057534
- UniProt VAR 072784
- ExAC rs765057534
- gnomAD rs765057534
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.86
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- EBI: Pathogenic (in AROD)
- UniProt: Pathogenic (in AROD)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn… (PMID 24705274)
- Cited in: Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. (PMID 8265607)