R11S (p.Arg11Ser) variant of KDM6B (Lysine-specific demethylase 6B)
R11S (p.Arg11Ser) 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.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- ExAC rs757487883
- gnomAD rs757487883
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.17
- MetaLR 0.15
- MetaSVM -0.83
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available