E22D (p.Glu22Asp) variant of KDM6A (Lysine-specific demethylase 6A)
E22D (p.Glu22Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 21.90
- PolyPhen-2 0.28
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available