P59S (p.Pro59Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P59S (p.Pro59Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs1214538742
- TOPMed rs1214538742
- gnomAD rs1214538742
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.08
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available