E21A (p.Glu21Ala) variant of KDM6A (Lysine-specific demethylase 6A)
E21A (p.Glu21Ala) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- gnomAD X-44873613-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available