S31* (p.Ser31Ter) variant of AQP5 (Aquaporin-5)
S31* (p.Ser31Ter) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S31* (p.Ser31Ter) variant details
- p.Ser31Ter
- gnomAD 12-49962109-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available