R84L (p.Arg84Leu) variant of MLC1 (Membrane protein MLC1)
R84L (p.Arg84Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
R84L (p.Arg84Leu) variant details
- p.Arg84Leu
- TOPMed rs1425784992
- gnomAD rs1425784992
- Pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- ESM-1b 0.00
- AlphaMissense 0.86
- EBI: Pathogenic (in MLC1)
- UniProt: Pathogenic (in MLC1)
- Population evidence available
- Structural context available