F18S (p.Phe18Ser) variant of AQP5 (Aquaporin-5)
F18S (p.Phe18Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- gnomAD rs1464257093
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.79
- CADD 25.90
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available