A74A (p.Ala74Ala) variant of AQP2 (Aquaporin-2)
A74A (p.Ala74Ala) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A74A (p.Ala74Ala) variant details
- p.Ala74Ala
- gnomAD 12-49951052-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available