P55L (p.Pro55Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P55L (p.Pro55Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- TOPMed rs1490712554
- gnomAD rs1490712554
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available