P59L (p.Pro59Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P59L (p.Pro59Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- Ensembl rs1567788701
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available