L52M (p.Leu52Met) variant of KDM6A (Lysine-specific demethylase 6A)
L52M (p.Leu52Met) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L52M (p.Leu52Met) variant details
- p.Leu52Met
- gnomAD X-44873705-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available