R14L (p.Arg14Leu) variant of KDM6B (Lysine-specific demethylase 6B)
R14L (p.Arg14Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 17-7845595-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.28
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available