E45D (p.Glu45Asp) variant of KDM6A (Lysine-specific demethylase 6A)
E45D (p.Glu45Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- gnomAD X-44873686-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available