P77R (p.Pro77Arg) variant of MLC1 (Membrane protein MLC1)
P77R (p.Pro77Arg) 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 0.46 / 1. The record also includes structural context.
P77R (p.Pro77Arg) variant details
- p.Pro77Arg
- ESP rs145484765
- ExAC rs145484765
- TOPMed rs145484765
- gnomAD rs145484765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- ESM-1b 0.00
- AlphaMissense 0.78
- MetaLR 0.72
- MetaSVM 0.44
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available