V12L (p.Val12Leu) variant of PLP1 (Myelin proteolipid protein)
V12L (p.Val12Leu) 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.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ExAC rs750073011
- gnomAD rs750073011
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available