R3539W (p.Arg3539Trp) variant of KMT2D (O14686)
R3539W (p.Arg3539Trp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R3539W (p.Arg3539Trp) variant details
- p.Arg3539Trp
- rs1943099538
- ClinGen CA384727933
- ClinVar RCV003225689
- TOPMed rs1943099538
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.18
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)