E22A (p.Glu22Ala) variant of KDM6A (Lysine-specific demethylase 6A)
E22A (p.Glu22Ala) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E22A (p.Glu22Ala) variant details
- p.Glu22Ala
- rs760601613
- ClinGen CA10392100
- ClinVar RCV001291708
- ExAC rs760601613
- Conflicting interpretations
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)