W5065S (p.Trp5065Ser) variant of KMT2D (O14686)
W5065S (p.Trp5065Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
W5065S (p.Trp5065Ser) variant details
- p.Trp5065Ser
- rs2120362721
- ClinGen CA384689252
- ClinVar RCV003149110
- Ensembl rs2120362721
- Pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- MutPred 0.84
- ClinVar: Pathogenic (Kabuki syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)