S50S (p.Ser50Ser) variant of KDM6B (Lysine-specific demethylase 6B)
S50S (p.Ser50Ser) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- rs372282783
- gnomAD 17-7845884-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available