I62L (p.Ile62Leu) variant of PLP1 (Myelin proteolipid protein)
I62L (p.Ile62Leu) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I62L (p.Ile62Leu) variant details
- p.Ile62Leu
- gnomAD X-103785761-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available