G59E (p.Gly59Glu) variant of MLC1 (Membrane protein MLC1)
G59E (p.Gly59Glu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MLC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- rs80358242
- ClinGen CA340284
- ClinVar RCV000004986
- ClinVar RCV000293896
- Pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- ESM-1b 0.72
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in MLC1)
- UniProt: Pathogenic (in MLC1)
- Population evidence available
- Structural context available
- Cited in: Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than… (PMID 12189496)
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)