G45S (p.Gly45Ser) variant of KDM6B (Lysine-specific demethylase 6B)
G45S (p.Gly45Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- TOPMed rs2078517965
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.25
- MetaLR 0.06
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available