E96D (p.Glu96Asp) variant of AQP3 (Aquaporin-3)
E96D (p.Glu96Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E96D (p.Glu96Asp) variant details
- p.Glu96Asp
- TOPMed rs1316539605
- gnomAD rs1316539605
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- AlphaMissense 0.36
- MetaLR 0.69
- MetaSVM 0.34
- CADD 14.50
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available