E145* (p.Glu145Ter) variant of ACE2 (Angiotensin-converting enzyme 2)
E145* (p.Glu145Ter) in ACE2 (Angiotensin-converting enzyme 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E145* (p.Glu145Ter) variant details
- p.Glu145Ter
- NCI-TCGA Cosmic COSV5302
- cosmic curated COSV53027
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available