A58D (p.Ala58Asp) variant of AQP2 (Aquaporin-2)
A58D (p.Ala58Asp) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A58D (p.Ala58Asp) variant details
- p.Ala58Asp
- gnomAD 12-49951003-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available