P58A (p.Pro58Ala) variant of LPL (Lipoprotein lipase)
P58A (p.Pro58Ala) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- gnomAD 8-19948263-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 22.30
- PolyPhen-2 0.60
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available