C5230Y (p.Cys5230Tyr) variant of KMT2D (O14686)
C5230Y (p.Cys5230Tyr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
C5230Y (p.Cys5230Tyr) variant details
- p.Cys5230Tyr
- rs2137715091
- ClinGen CA384685591
- ClinVar RCV001849638
- ClinVar RCV002034773
- Pathogenic
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- MutPred 0.82
- ClinVar: Pathogenic (Kabuki syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)