A46T (p.Ala46Thr) variant of AQP5 (Aquaporin-5)
A46T (p.Ala46Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- TOPMed rs1481308684
- gnomAD rs1481308684
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.48
- CADD 7.10
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available