W2* (p.Trp2Ter) variant of AQP2 (Aquaporin-2)
W2* (p.Trp2Ter) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- TOPMed rs1382799709
- gnomAD rs1382799709
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available