P44L (p.Pro44Leu) variant of MLC1 (Membrane protein MLC1)
P44L (p.Pro44Leu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- cosmic curated COSV61118
- ExAC rs754954583
- TOPMed rs754954583
- gnomAD rs754954583
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- Population evidence available
- Structural context available