C5104F (p.Cys5104Phe) variant of KMT2D (O14686)
C5104F (p.Cys5104Phe) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C5104F (p.Cys5104Phe) variant details
- p.Cys5104Phe
- rs2120361380
- ClinGen CA384688691
- ClinVar RCV001644561
- Ensembl rs2120361380
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- MutPred 0.91
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)