A31A (p.Ala31Ala) variant of AQP2 (Aquaporin-2)
A31A (p.Ala31Ala) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A31A (p.Ala31Ala) variant details
- p.Ala31Ala
- rs771261931
- gnomAD 12-49950923-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 9.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available