C5133R (p.Cys5133Arg) variant of KMT2D (O14686)
C5133R (p.Cys5133Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C5133R (p.Cys5133Arg) variant details
- p.Cys5133Arg
- rs2120360235
- ClinGen CA384688343
- ClinVar RCV002018131
- Ensembl rs2120360235
- Likely pathogenic
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- MutPred 0.87
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)