A9T (p.Ala9Thr) variant of AQP5 (Aquaporin-5)
A9T (p.Ala9Thr) in AQP5 (Aquaporin-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- NCI-TCGA TCGA novel
- Ensembl rs1947429048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available