E79K (p.Glu79Lys) variant of MLC1 (Membrane protein MLC1)
E79K (p.Glu79Lys) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- rs1378938503
- ClinGen CA412111595
- ClinVar RCV000669265
- ClinVar RCV003155268
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)