T21S (p.Thr21Ser) variant of AQP5 (Aquaporin-5)
T21S (p.Thr21Ser) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T21S (p.Thr21Ser) variant details
- p.Thr21Ser
- gnomAD 12-49962075-GCCAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available