L11P (p.Leu11Pro) variant of AQP5 (Aquaporin-5)
L11P (p.Leu11Pro) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- 1000Genomes rs575071552
- ExAC rs575071552
- TOPMed rs575071552
- gnomAD rs575071552
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.66
- CADD 4.29
- PolyPhen-2 0.41
- SIFT 0.19
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available