G20E (p.Gly20Glu) variant of KDM6B (Lysine-specific demethylase 6B)
G20E (p.Gly20Glu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- TOPMed rs1252771491
- gnomAD rs1252771491
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.09
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available