R84C (p.Arg84Cys) variant of MLC1 (Membrane protein MLC1)
R84C (p.Arg84Cys) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R84C (p.Arg84Cys) variant details
- p.Arg84Cys
- rs281875311
- ClinGen CA219964
- ClinVar RCV000059743
- ClinVar RCV001831812
- Pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.07
- 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: an update and extended mutation analysis of MLC1. (PMID 16652334)
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)