E28D (p.Glu28Asp) variant of AQP3 (Aquaporin-3)
E28D (p.Glu28Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD rs1489743207
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.70
- AlphaMissense 0.97
- MetaLR 0.73
- MetaSVM 0.79
- CADD 22.50
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available