C1380R (p.Cys1380Arg) variant of KMT2D (O14686)
C1380R (p.Cys1380Arg) 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 0.98 / 1. The record also includes published literature and structural context.
C1380R (p.Cys1380Arg) variant details
- p.Cys1380Arg
- rs2120621227
- ClinGen CA384649814
- ClinVar RCV001809117
- UniProt VAR 074224
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic (in KABUK1)
- UniProt: Likely pathogenic (in KABUK1)
- Structural context available
- Cited in: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. (PMID 23320472)
- Cited in: Kabuki Syndrome. (PMID 21882399)