L19P (p.Leu19Pro) variant of KDM6B (Lysine-specific demethylase 6B)
L19P (p.Leu19Pro) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- ExAC rs761487599
- TOPMed rs761487599
- gnomAD rs761487599
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- MetaLR 0.05
- MetaSVM -1.07
- CADD 24.60
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available