G73E (p.Gly73Glu) variant of MLC1 (Membrane protein MLC1)
G73E (p.Gly73Glu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G73E (p.Gly73Glu) variant details
- p.Gly73Glu
- rs1602063709
- ClinGen CA412111628
- ClinVar RCV000800745
- ClinVar RCV003472364
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)