S50G (p.Ser50Gly) variant of KDM6B (Lysine-specific demethylase 6B)
S50G (p.Ser50Gly) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S50G (p.Ser50Gly) variant details
- p.Ser50Gly
- gnomAD 17-7845882-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.02
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available