R11P (p.Arg11Pro) variant of KDM6B (Lysine-specific demethylase 6B)
R11P (p.Arg11Pro) 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.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- ExAC rs779450351
- TOPMed rs779450351
- gnomAD rs779450351
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.81
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available