E22E (p.Glu22Glu) variant of KDM6A (Lysine-specific demethylase 6A)
E22E (p.Glu22Glu) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs1222338105
- gnomAD X-44873617-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 14.50
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available