S66L (p.Ser66Leu) variant of MLC1 (Membrane protein MLC1)
S66L (p.Ser66Leu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S66L (p.Ser66Leu) variant details
- p.Ser66Leu
- ESP rs376812050
- ExAC rs376812050
- TOPMed rs376812050
- gnomAD rs376812050
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- ESM-1b 0.00
- AlphaMissense 0.33
- Population evidence available
- Structural context available