E96K (p.Glu96Lys) variant of AQP3 (Aquaporin-3)
E96K (p.Glu96Lys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- ExAC rs779519202
- gnomAD rs779519202
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.57
- AlphaMissense 0.28
- MetaLR 0.76
- MetaSVM 0.65
- CADD 24.10
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available