E79A (p.Glu79Ala) variant of MLC1 (Membrane protein MLC1)
E79A (p.Glu79Ala) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E79A (p.Glu79Ala) variant details
- p.Glu79Ala
- gnomAD 2-210298422-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.63
- MetaSVM 0.33
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available