W67* (p.Trp67Ter) variant of CYP19A1 (Aromatase)
W67* (p.Trp67Ter) 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 0.87 / 1. The record also includes population frequency data and structural context.
W67* (p.Trp67Ter) variant details
- p.Trp67Ter
- rs371981915
- ClinGen CA7560138
- ClinVar RCV002012222
- ESP rs371981915
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available