E3004Q (p.Glu3004Gln) variant of KMT2D (O14686)
E3004Q (p.Glu3004Gln) 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 0.66 / 1. The record also includes published literature and structural context.
E3004Q (p.Glu3004Gln) variant details
- p.Glu3004Gln
- rs2120494972
- ClinVar RCV004595691
- Ensembl rs2120494972
- Pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.59
- MetaLR 0.68
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.23
- ClinVar: Pathogenic (Kabuki syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)