L11I (p.Leu11Ile) variant of AQP5 (Aquaporin-5)
L11I (p.Leu11Ile) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 12-49962048-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available