L56F (p.Leu56Phe) variant of KDM6B (Lysine-specific demethylase 6B)
L56F (p.Leu56Phe) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- gnomAD 17-7845900-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available