E79R (p.Glu79Arg) variant of MLC1 (Membrane protein MLC1)
E79R (p.Glu79Arg) in MLC1 (Membrane protein MLC1) is a protein-truncating 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.
E79R (p.Glu79Arg) variant details
- p.Glu79Arg
- rs1334058857
- gnomAD 2-210298455-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available