R22S (p.Arg22Ser) variant of LPL (Lipoprotein lipase)
R22S (p.Arg22Ser) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- TOPMed rs980246871
- gnomAD rs980246871
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- MetaLR 0.41
- MetaSVM -0.67
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0077)
- Structural context available