P33L (p.Pro33Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P33L (p.Pro33Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD 17-7845652-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.14
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available