L22M (p.Leu22Met) variant of KDM6B (Lysine-specific demethylase 6B)
L22M (p.Leu22Met) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 17-7845618-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available