S48L (p.Ser48Leu) variant of KDM6B (Lysine-specific demethylase 6B)
S48L (p.Ser48Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- gnomAD 17-7845877-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.07
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available