E79G (p.Glu79Gly) variant of MLC1 (Membrane protein MLC1)
E79G (p.Glu79Gly) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E79G (p.Glu79Gly) variant details
- p.Glu79Gly
- gnomAD 2-210298455-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.82
- MetaSVM 0.96
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available