E36D (p.Glu36Asp) variant of KDM6A (Lysine-specific demethylase 6A)
E36D (p.Glu36Asp) 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 and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- cosmic curated COSV10468
- gnomAD rs1433062891
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available