A12A (p.Ala12Ala) variant of AQP2 (Aquaporin-2)
A12A (p.Ala12Ala) in AQP2 (Aquaporin-2) 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.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 12-49950866-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0877
- CADD 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available