C5338Y (p.Cys5338Tyr) variant of KMT2D (O14686)
C5338Y (p.Cys5338Tyr) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome. The record also includes variant effect predictions, published literature, and structural context.
C5338Y (p.Cys5338Tyr) variant details
- p.Cys5338Tyr
- rs2137710573
- ClinGen CA384681332
- ClinVar RCV001951215
- Ensembl rs2137710573
- Pathogenic
- Kabuki syndrome
- Missense
- MutPred 0.43
- ClinVar: Pathogenic (Kabuki syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)