R86* (p.Arg86Ter) variant of CYP19A1 (Aromatase)
R86* (p.Arg86Ter) 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 0.33 / 1. The record also includes population frequency data and structural context.
R86* (p.Arg86Ter) variant details
- p.Arg86Ter
- rs374081925
- ClinGen CA270541984
- ClinVar RCV001390859
- ESP rs374081925
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available