P35L (p.Pro35Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P35L (p.Pro35Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- TOPMed rs1483985578
- gnomAD rs1483985578
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.92
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available