R5179P (p.Arg5179Pro) variant of KMT2D (O14686)
R5179P (p.Arg5179Pro) 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 variant effect predictions, published literature, and structural context.
R5179P (p.Arg5179Pro) variant details
- p.Arg5179Pro
- rs267607237
- ClinGen CA384687087
- ClinVar RCV002026116
- Ensembl rs267607237
- Likely pathogenic
- Kabuki syndrome
- Missense
- MutPred 0.64
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Pathogenic (in KABUK1)
- UniProt: Pathogenic (in KABUK1)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)