R280K (p.Arg280Lys) variant of KMT2D (O14686)
R280K (p.Arg280Lys) 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 0.81 / 1. The record also includes published literature and structural context.
R280K (p.Arg280Lys) variant details
- p.Arg280Lys
- rs2120696377
- ClinGen CA384680510
- ClinVar RCV003890768
- ClinVar RCV004731582
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.83
- MetaLR 0.77
- MetaSVM 0.80
- PolyPhen-2 0.97
- SIFT 0.04
- MutPred 0.59
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)