F14L (p.Phe14Leu) variant of AQP2 (Aquaporin-2)
F14L (p.Phe14Leu) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- ExAC rs775148085
- TOPMed rs775148085
- gnomAD rs775148085
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.21
- CADD 0.67
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available