L29Q (p.Leu29Gln) variant of AQP5 (Aquaporin-5)
L29Q (p.Leu29Gln) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L29Q (p.Leu29Gln) variant details
- p.Leu29Gln
- gnomAD 12-49962103-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.57
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available