A56T (p.Ala56Thr) variant of AQP7 (Aquaporin-7)
A56T (p.Ala56Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- gnomAD rs1263139303
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available