E4K (p.Glu4Lys) variant of AQP5 (Aquaporin-5)
E4K (p.Glu4Lys) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- TOPMed rs1947428679
- gnomAD rs1947428679
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available