E44E (p.Glu44Glu) variant of KDM6A (Lysine-specific demethylase 6A)
E44E (p.Glu44Glu) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E44E (p.Glu44Glu) variant details
- p.Glu44Glu
- gnomAD X-44873683-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available