E4G (p.Glu4Gly) variant of AQP5 (Aquaporin-5)
E4G (p.Glu4Gly) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- TOPMed rs1414511990
- gnomAD rs1414511990
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.66
- CADD 28.00
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available