E33D (p.Glu33Asp) variant of KDM6A (Lysine-specific demethylase 6A)
E33D (p.Glu33Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD X-44873650-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available