L23F (p.Leu23Phe) variant of AQP1 (Aquaporin-1)
L23F (p.Leu23Phe) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- TOPMed rs1280879987
- gnomAD rs1280879987
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.37
- MetaLR 0.60
- MetaSVM 0.03
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available