R5432L (p.Arg5432Leu) variant of KMT2D (O14686)
R5432L (p.Arg5432Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome. The record also includes published literature and structural context.
R5432L (p.Arg5432Leu) variant details
- p.Arg5432Leu
- rs398123734
- ClinGen CA384677598
- NCI-TCGA Cosmic COSV5640
- NCI-TCGA Cosmic COSV9998
- Likely pathogenic
- Kabuki syndrome
- Missense
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Pathogenic (in KABUK1)
- UniProt: Pathogenic (in KABUK1)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)