A48E (p.Ala48Glu) variant of KDM6A (Lysine-specific demethylase 6A)
A48E (p.Ala48Glu) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A48E (p.Ala48Glu) variant details
- p.Ala48Glu
- TOPMed rs1392945538
- gnomAD rs1392945538
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 19.70
- PolyPhen-2 0.73
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available