L40L (p.Leu40Leu) variant of PLP1 (Myelin proteolipid protein)
L40L (p.Leu40Leu) in PLP1 (Myelin proteolipid protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs1186741421
- gnomAD X-103785697-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 8.47
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available