P59A (p.Pro59Ala) variant of KDM6B (Lysine-specific demethylase 6B)
P59A (p.Pro59Ala) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- TOPMed rs1214538742
- gnomAD rs1214538742
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.08
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available