S39R (p.Ser39Arg) variant of KDM6B (Lysine-specific demethylase 6B)
S39R (p.Ser39Arg) 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.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- ExAC rs769473886
- TOPMed rs769473886
- gnomAD rs769473886
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.20
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available