L43P (p.Leu43Pro) variant of AQP5 (Aquaporin-5)
L43P (p.Leu43Pro) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- ExAC rs745880687
- TOPMed rs745880687
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- CADD 24.60
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available