S30C (p.Ser30Cys) variant of KDM6B (Lysine-specific demethylase 6B)
S30C (p.Ser30Cys) 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.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- TOPMed rs1438275302
- gnomAD rs1438275302
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.73
- CADD 25.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available