A99T (p.Ala99Thr) variant of AQP4 (Aquaporin-4)
A99T (p.Ala99Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A99T (p.Ala99Thr) variant details
- p.Ala99Thr
- Ensembl rs949486328
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.87
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available