A46P (p.Ala46Pro) variant of AQP5 (Aquaporin-5)
A46P (p.Ala46Pro) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A46P (p.Ala46Pro) variant details
- p.Ala46Pro
- TOPMed rs1481308684
- gnomAD rs1481308684
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.54
- CADD 8.17
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available