F24F (p.Phe24Phe) variant of AQP5 (Aquaporin-5)
F24F (p.Phe24Phe) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F24F (p.Phe24Phe) variant details
- p.Phe24Phe
- rs1381695244
- gnomAD 12-49962089-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 8.74
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available