A94D (p.Ala94Asp) variant of AQP3 (Aquaporin-3)
A94D (p.Ala94Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A94D (p.Ala94Asp) variant details
- p.Ala94Asp
- TOPMed rs1401676584
- gnomAD rs1401676584
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.31
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available