L18V (p.Leu18Val) variant of LPL (Lipoprotein lipase)
L18V (p.Leu18Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- TOPMed rs1259299905
- gnomAD rs1259299905
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- MetaLR 0.63
- MetaSVM -0.31
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available