S68F (p.Ser68Phe) variant of KDM6B (Lysine-specific demethylase 6B)
S68F (p.Ser68Phe) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S68F (p.Ser68Phe) variant details
- p.Ser68Phe
- TOPMed rs1318377325
- gnomAD rs1318377325
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available