L19V (p.Leu19Val) variant of PLP1 (Myelin proteolipid protein)
L19V (p.Leu19Val) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD X-103785632-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available