C7Y (p.Cys7Tyr) variant of PLP1 (Myelin proteolipid protein)
C7Y (p.Cys7Tyr) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- gnomAD X-103785597-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available