G117* (p.Gly117Ter) variant of AQP3 (Aquaporin-3)
G117* (p.Gly117Ter) in AQP3 (Aquaporin-3) 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 0.87 / 1. The record also includes population frequency data and structural context.
G117* (p.Gly117Ter) variant details
- p.Gly117Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available