F18F (p.Phe18Phe) variant of AQP1 (Aquaporin-1)
F18F (p.Phe18Phe) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F18F (p.Phe18Phe) variant details
- p.Phe18Phe
- rs542172945
- gnomAD 7-30911963-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 12.90
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available