R365W (p.Arg365Trp) variant of CYP19A1 (Aromatase)
R365W (p.Arg365Trp) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R365W (p.Arg365Trp) variant details
- p.Arg365Trp
- rs202076619
- ClinGen CA7559867
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53059
- Conflicting interpretations
- not specified; Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.96
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Aromatase deficiency)
- EBI: Likely benign (in AROD)
- UniProt: Likely benign (in AROD)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available