A12T (p.Ala12Thr) variant of LPL (Lipoprotein lipase)
A12T (p.Ala12Thr) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 8-19939474-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.32
- MetaSVM -0.70
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available