A20A (p.Ala20Ala) variant of AQP5 (Aquaporin-5)
A20A (p.Ala20Ala) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- gnomAD 12-49962077-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available