A70A (p.Ala70Ala) variant of AQP2 (Aquaporin-2)
A70A (p.Ala70Ala) 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.
A70A (p.Ala70Ala) variant details
- p.Ala70Ala
- rs139893949
- gnomAD 12-49951040-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0875
- CADD 1.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available