Y58* (p.Tyr58Ter) variant of PLP1 (Myelin proteolipid protein)
Y58* (p.Tyr58Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y58* (p.Tyr58Ter) variant details
- p.Tyr58Ter
- gnomAD X-103785751-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 34.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available