P39L (p.Pro39Leu) variant of KDM6A (Lysine-specific demethylase 6A)
P39L (p.Pro39Leu) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- ExAC rs757954946
- TOPMed rs757954946
- gnomAD rs757954946
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available