D20E (p.Asp20Glu) variant of KDM6A (Lysine-specific demethylase 6A)
D20E (p.Asp20Glu) 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.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- gnomAD X-44873611-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available