G44E (p.Gly44Glu) variant of KDM6B (Lysine-specific demethylase 6B)
G44E (p.Gly44Glu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- gnomAD rs1436601341
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available