E9G (p.Glu9Gly) variant of KMT2D (O14686)
E9G (p.Glu9Gly) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- rs2120718422
- ClinGen CA384691348
- ClinVar RCV003589645
- Ensembl rs2120718422
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.37
- MetaLR 0.53
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)