D48E (p.Asp48Glu) variant of AQP1 (Aquaporin-1)
D48E (p.Asp48Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- gnomAD rs1340576534
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.68
- MetaLR 0.79
- MetaSVM 0.54
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available