A144A (p.Ala144Ala) variant of AQP3 (Aquaporin-3)
A144A (p.Ala144Ala) in AQP3 (Aquaporin-3) 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.
A144A (p.Ala144Ala) variant details
- p.Ala144Ala
- rs547088243
- gnomAD 9-33442912-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0949
- CADD 2.01
- Population evidence available
- Structural context available
- Literature evidence available