W35* (p.Trp35Ter) variant of AQP5 (Aquaporin-5)
W35* (p.Trp35Ter) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W35* (p.Trp35Ter) variant details
- p.Trp35Ter
- ExAC rs752243612
- gnomAD rs752243612
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 35.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available