I23T (p.Ile23Thr) variant of AQP5 (Aquaporin-5)
I23T (p.Ile23Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- gnomAD 12-49962085-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.72
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available