L60Q (p.Leu60Gln) variant of KDM6B (Lysine-specific demethylase 6B)
L60Q (p.Leu60Gln) 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.
L60Q (p.Leu60Gln) variant details
- p.Leu60Gln
- gnomAD 17-7845913-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.13
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available