R11H (p.Arg11His) variant of KDM6B (Lysine-specific demethylase 6B)
R11H (p.Arg11His) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- cosmic curated COSV54681
- ExAC rs779450351
- TOPMed rs779450351
- gnomAD rs779450351
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.81
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available