A38A (p.Ala38Ala) variant of AQP5 (Aquaporin-5)
A38A (p.Ala38Ala) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- gnomAD 12-49962131-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0947
- CADD 1.99
- Population evidence available
- Structural context available
- Literature evidence available