A157E (p.Ala157Glu) variant of MLC1 (Membrane protein MLC1)
A157E (p.Ala157Glu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephalic leukoencephalopathy with subcortical cysts; Megalencephalic leuk. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A157E (p.Ala157Glu) variant details
- p.Ala157Glu
- rs1219458189
- ClinGen CA412109796
- ClinVar RCV002274702
- ClinVar RCV003475321
- Likely pathogenic
- Megalencephalic leukoencephalopathy with subcortical cysts; Megalencephalic leuk
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.76
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Megalencephalic leukoencephalopathy with subcortical cysts; Mega)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)