E44G (p.Glu44Gly) variant of KDM6A (Lysine-specific demethylase 6A)
E44G (p.Glu44Gly) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- gnomAD X-44873682-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 27.00
- PolyPhen-2 0.18
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available