K11E (p.Lys11Glu) variant of KMT2D (O14686)
K11E (p.Lys11Glu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The record also includes published literature and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- rs2498474255
- ClinGen CA384691302
- ClinVar RCV003842957
- Uncertain significance
- Kabuki syndrome
- Missense
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)