E47E (p.Glu47Glu) variant of KDM6A (Lysine-specific demethylase 6A)
E47E (p.Glu47Glu) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- rs1236803571
- gnomAD X-44873692-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 14.00
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available