M80I (p.Met80Ile) variant of MLC1 (Membrane protein MLC1)
M80I (p.Met80Ile) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- rs281875310
- ClinGen CA219963
- ClinVar RCV000059742
- ClinVar RCV001810419
- Pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Pathogenic (in MLC1)
- UniProt: Pathogenic (in MLC1)
- Population evidence available
- Structural context available
- Cited in: Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (PMID 16652334)
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)