D6E (p.Asp6Glu) variant of KDM6B (Lysine-specific demethylase 6B)
D6E (p.Asp6Glu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- ExAC rs777910831
- TOPMed rs777910831
- gnomAD rs777910831
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available