H2Y (p.His2Tyr) variant of KDM6B (Lysine-specific demethylase 6B)
H2Y (p.His2Tyr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H2Y (p.His2Tyr) variant details
- p.His2Tyr
- ExAC rs766277946
- TOPMed rs766277946
- gnomAD rs766277946
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available