E79E (p.Glu79Glu) variant of MLC1 (Membrane protein MLC1)
E79E (p.Glu79Glu) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E79E (p.Glu79Glu) variant details
- p.Glu79Glu
- rs753507577
- gnomAD 2-210294417-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 13.70
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available