A8A (p.Ala8Ala) variant of AQP2 (Aquaporin-2)
A8A (p.Ala8Ala) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1592814524
- gnomAD 12-49950854-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 10.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available