R11C (p.Arg11Cys) variant of KDM6B (Lysine-specific demethylase 6B)
R11C (p.Arg11Cys) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- ExAC rs757487883
- gnomAD rs757487883
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.99
- CADD 24.70
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available