E5425K (p.Glu5425Lys) variant of KMT2D (O14686)
E5425K (p.Glu5425Lys) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
E5425K (p.Glu5425Lys) variant details
- p.Glu5425Lys
- rs2137706560
- ClinGen CA384677795
- NCI-TCGA Cosmic COSV5645
- ClinVar RCV002267217
- Pathogenic
- Kabuki syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- MutPred 0.88
- ClinVar: Pathogenic (Kabuki syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)