I23A (p.Ile23Ala) variant of AQP5 (Aquaporin-5)
I23A (p.Ile23Ala) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I23A (p.Ile23Ala) variant details
- p.Ile23Ala
- gnomAD 12-49962082-TCATC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available