R375C (p.Arg375Cys) variant of CYP19A1 (Aromatase)
R375C (p.Arg375Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R375C (p.Arg375Cys) variant details
- p.Arg375Cys
- rs121434536
- ClinGen CA127458
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53057
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.90
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- EBI: Pathogenic (in AROD)
- UniProt: Pathogenic (in AROD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. (PMID 8530621)
- Cited in: Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. (PMID 9718379)