L33F (p.Leu33Phe) variant of AQP3 (Aquaporin-3)
L33F (p.Leu33Phe) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- gnomAD rs1237412703
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.23
- AlphaMissense 0.88
- MetaLR 0.29
- MetaSVM -0.27
- CADD 22.40
- PolyPhen-2 0.86
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available