A8D (p.Ala8Asp) variant of AQP2 (Aquaporin-2)
A8D (p.Ala8Asp) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- TOPMed rs1237811033
- gnomAD rs1237811033
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.53
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available