Q58* (p.Gln58Ter) variant of AQP5 (Aquaporin-5)
Q58* (p.Gln58Ter) in AQP5 (Aquaporin-5) 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 0.84 / 1. The record also includes population frequency data and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs1349801845
- NCI-TCGA Cosmic COSV9952
- gnomAD rs1349801845
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available