S67R (p.Ser67Arg) variant of KDM6B (Lysine-specific demethylase 6B)
S67R (p.Ser67Arg) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S67R (p.Ser67Arg) variant details
- p.Ser67Arg
- ExAC rs774420605
- TOPMed rs774420605
- gnomAD rs774420605
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available