W11* (p.Trp11Ter) variant of AQP1 (Aquaporin-1)
W11* (p.Trp11Ter) in AQP1 (Aquaporin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs1311863823
- gnomAD 7-30921605-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.17
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available