K4541R (p.Lys4541Arg) variant of KMT2D (O14686)
K4541R (p.Lys4541Arg) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Kabuki syndrome 1; not provided. The record also includes variant effect predictions, published literature, and structural context.
K4541R (p.Lys4541Arg) variant details
- p.Lys4541Arg
- rs2120411901
- ClinVar RCV004595696
- ClinVar RCV005648293
- Ensembl rs2120411901
- Pathogenic/Likely pathogenic
- Kabuki syndrome 1; not provided
- Missense
- MutPred 0.40
- ClinVar: Pathogenic/Likely pathogenic (Kabuki syndrome 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)