L83F (p.Leu83Phe) variant of MLC1 (Membrane protein MLC1)
L83F (p.Leu83Phe) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
L83F (p.Leu83Phe) variant details
- p.Leu83Phe
- rs1289520784
- ClinGen CA412111559
- ClinVar RCV001506968
- ClinVar RCV002564186
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.79
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)