F9F (p.Phe9Phe) variant of AQP2 (Aquaporin-2)
F9F (p.Phe9Phe) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F9F (p.Phe9Phe) variant details
- p.Phe9Phe
- rs187754589
- gnomAD 12-49950857-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 10.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available