E45K (p.Glu45Lys) variant of KDM6A (Lysine-specific demethylase 6A)
E45K (p.Glu45Lys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD rs1448211324
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.97
- MetaLR 0.37
- MetaSVM -0.31
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available