C54S (p.Cys54Ser) variant of LPL (Lipoprotein lipase)
C54S (p.Cys54Ser) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C54S (p.Cys54Ser) variant details
- p.Cys54Ser
- gnomAD 8-19948252-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available