F23F (p.Phe23Phe) variant of AQP2 (Aquaporin-2)
F23F (p.Phe23Phe) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
F23F (p.Phe23Phe) variant details
- p.Phe23Phe
- rs779085450
- gnomAD 12-49950899-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0816
- CADD 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available