P46A (p.Pro46Ala) variant of LPL (Lipoprotein lipase)
P46A (p.Pro46Ala) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- gnomAD 8-19948227-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 15.70
- PolyPhen-2 0.05
- SIFT 0.68
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available