E5V (p.Glu5Val) variant of PLP1 (Myelin proteolipid protein)
E5V (p.Glu5Val) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD X-103785588-TAG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 29.30
- Population evidence available
- Structural context available
- Literature evidence available