R38H (p.Arg38His) variant of KDM6B (Lysine-specific demethylase 6B)
R38H (p.Arg38His) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- 1000Genomes rs531880923
- ExAC rs531880923
- TOPMed rs531880923
- gnomAD rs531880923
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.22
- MetaLR 0.08
- MetaSVM -1.03
- CADD 27.10
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available