C5035Y (p.Cys5035Tyr) variant of KMT2D (O14686)
C5035Y (p.Cys5035Tyr) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C5035Y (p.Cys5035Tyr) variant details
- p.Cys5035Tyr
- rs398123723
- ClinGen CA384689938
- ClinVar RCV001775289
- Ensembl rs398123723
- Pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- MutPred 0.89
- ClinVar: Pathogenic (Kabuki syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)