G47E (p.Gly47Glu) variant of KMT2D (O14686)
G47E (p.Gly47Glu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- rs1453779890
- ClinGen CA384690115
- ClinVar RCV004411909
- TOPMed rs1453779890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.59
- PolyPhen-2 0.04
- SIFT 0.27
- MutPred 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)