E79D (p.Glu79Asp) variant of MLC1 (Membrane protein MLC1)
E79D (p.Glu79Asp) 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, published literature, and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- gnomAD 2-210294396-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.09
- MetaSVM -0.95
- CADD 14.30
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available
- Literature evidence available