H70Y (p.His70Tyr) variant of KDM6B (Lysine-specific demethylase 6B)
H70Y (p.His70Tyr) 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.
H70Y (p.His70Tyr) variant details
- p.His70Tyr
- ExAC rs767869008
- TOPMed rs767869008
- gnomAD rs767869008
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available