E47G (p.Glu47Gly) variant of KDM6A (Lysine-specific demethylase 6A)
E47G (p.Glu47Gly) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- rs2031089646
- ClinGen CA413020371
- ClinVar RCV001254085
- Ensembl rs2031089646
- Pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic (Kabuki syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)