I22T (p.Ile22Thr) variant of AQP7 (Aquaporin-7)
I22T (p.Ile22Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- gnomAD rs1317523871
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available