R192C (p.Arg192Cys) variant of CYP19A1 (Aromatase)
R192C (p.Arg192Cys) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar 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 0.67 / 1. The record also includes population frequency data and structural context.
R192C (p.Arg192Cys) variant details
- p.Arg192Cys
- rs1451235851
- NCI-TCGA Cosmic COSV5306
- cosmic curated COSV53061
- TOPMed rs1451235851
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.91
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Likely pathogenic (Aromatase deficiency)
- UniProt: Likely pathogenic (in AROD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available