A9A (p.Ala9Ala) variant of AQP5 (Aquaporin-5)
A9A (p.Ala9Ala) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs1366365224
- gnomAD 12-49962044-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 9.63
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available