F14F (p.Phe14Phe) variant of AQP2 (Aquaporin-2)
F14F (p.Phe14Phe) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
F14F (p.Phe14Phe) variant details
- p.Phe14Phe
- rs775148085
- gnomAD 12-49950872-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0991
- CADD 2.61
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available