S69L (p.Ser69Leu) variant of MLC1 (Membrane protein MLC1)
S69L (p.Ser69Leu) 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.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- rs281875309
- ClinGen CA219962
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61116
- Pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.86
- MetaSVM 0.91
- 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: Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (PMID 21624973)