F24S (p.Phe24Ser) variant of AQP5 (Aquaporin-5)
F24S (p.Phe24Ser) 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.
F24S (p.Phe24Ser) variant details
- p.Phe24Ser
- 1000Genomes rs142676062
- ESP rs142676062
- ExAC rs142676062
- TOPMed rs142676062
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.79
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available