L83M (p.Leu83Met) variant of MLC1 (Membrane protein MLC1)
L83M (p.Leu83Met) 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 0.20 / 1. The record also includes structural context.
L83M (p.Leu83Met) variant details
- p.Leu83Met
- rs2518358338
- ClinGen CA412111565
- ClinVar RCV003579642
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available