I47L (p.Ile47Leu) variant of PLP1 (Myelin proteolipid protein)
I47L (p.Ile47Leu) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I47L (p.Ile47Leu) variant details
- p.Ile47Leu
- gnomAD rs1324241919
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 16.20
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available