T41A (p.Thr41Ala) variant of AQP5 (Aquaporin-5)
T41A (p.Thr41Ala) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- gnomAD rs1947431229
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.28
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available