R365Q (p.Arg365Gln) variant of CYP19A1 (Aromatase)
R365Q (p.Arg365Gln) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R365Q (p.Arg365Gln) variant details
- p.Arg365Gln
- rs80051519
- ClinGen CA127460
- cosmic curated COSV53059
- ClinVar RCV000019399
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- EBI: Pathogenic (in AROD)
- UniProt: Pathogenic (in AROD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Effect of testosterone and estradiol in a man with aromatase deficiency. (PMID 9211678)
- Cited in: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn… (PMID 24705274)