F48I (p.Phe48Ile) variant of AQP2 (Aquaporin-2)
F48I (p.Phe48Ile) in AQP2 (Aquaporin-2) 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.
F48I (p.Phe48Ile) variant details
- p.Phe48Ile
- gnomAD rs1172724582
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- CADD 24.30
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available