R11L (p.Arg11Leu) variant of KDM6B (Lysine-specific demethylase 6B)
R11L (p.Arg11Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- cosmic curated COSV54684
- ExAC rs779450351
- TOPMed rs779450351
- gnomAD rs779450351
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.84
- CADD 28.40
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available