K23E (p.Lys23Glu) variant of KDM6A (Lysine-specific demethylase 6A)
K23E (p.Lys23Glu) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- gnomAD X-44873618-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available