E45V (p.Glu45Val) variant of KDM6A (Lysine-specific demethylase 6A)
E45V (p.Glu45Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- gnomAD X-44873685-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available