E129* (p.Glu129Ter) variant of CYP19A1 (Aromatase)
E129* (p.Glu129Ter) 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 0.49 / 1. The record also includes structural context.
E129* (p.Glu129Ter) variant details
- p.Glu129Ter
- rs1239898028
- ClinGen CA392421173
- ClinVar RCV003543692
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.19
- MetaLR 0.54
- MetaSVM -0.02
- PolyPhen-2 0.84
- SIFT 0.07
- EVE 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available