E35K (p.Glu35Lys) variant of KDM6A (Lysine-specific demethylase 6A)
E35K (p.Glu35Lys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- gnomAD X-44873654-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available