A44T (p.Ala44Thr) variant of AQP4 (Aquaporin-4)
A44T (p.Ala44Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- Ensembl rs1568069898
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.90
- CADD 28.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available