R22A (p.Arg22Ala) variant of LPL (Lipoprotein lipase)
R22A (p.Arg22Ala) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R22A (p.Arg22Ala) variant details
- p.Arg22Ala
- gnomAD 8-19939501-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available