R115* (p.Arg115Ter) variant of CYP19A1 (Aromatase)
R115* (p.Arg115Ter) in CYP19A1 (Aromatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R115* (p.Arg115Ter) variant details
- p.Arg115Ter
- rs2141079375
- ClinGen CA392421264
- NCI-TCGA Cosmic COSV5306
- cosmic curated COSV53062
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available