E22G (p.Glu22Gly) variant of KDM6A (Lysine-specific demethylase 6A)
E22G (p.Glu22Gly) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- cosmic curated COSV65039
- ExAC rs760601613
- TOPMed rs760601613
- gnomAD rs760601613
- Benign
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.23
- ClinVar: Benign (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.6e-05)
- Structural context available