E79V (p.Glu79Val) variant of MLC1 (Membrane protein MLC1)
E79V (p.Glu79Val) 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.
E79V (p.Glu79Val) variant details
- p.Glu79Val
- rs781219009
- gnomAD 2-210294395-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available