L16F (p.Leu16Phe) variant of AQP4 (Aquaporin-4)
L16F (p.Leu16Phe) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- gnomAD rs1361101798
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 18.40
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available