R35* (p.Arg35Ter) variant of AQP7 (Aquaporin-7)
R35* (p.Arg35Ter) in AQP7 (Aquaporin-7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R35* (p.Arg35Ter) variant details
- p.Arg35Ter
- ExAC rs747841241
- TOPMed rs747841241
- gnomAD rs747841241
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 35.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available