F18Y (p.Phe18Tyr) variant of AQP1 (Aquaporin-1)
F18Y (p.Phe18Tyr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F18Y (p.Phe18Tyr) variant details
- p.Phe18Tyr
- rs1177291310
- gnomAD 7-30921663-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 5.46
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available