G69E (p.Gly69Glu) variant of KDM6B (Lysine-specific demethylase 6B)
G69E (p.Gly69Glu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- ESP rs375162097
- TOPMed rs375162097
- gnomAD rs375162097
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.79
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available