R32F (p.Arg32Phe) variant of LPL (Lipoprotein lipase)
R32F (p.Arg32Phe) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R32F (p.Arg32Phe) variant details
- p.Arg32Phe
- rs1263698980
- gnomAD 8-19948181-AAGAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available