L15I (p.Leu15Ile) variant of LPL (Lipoprotein lipase)
L15I (p.Leu15Ile) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes population frequency data and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- rs781367198
- ClinGen CA4655266
- ClinVar RCV003221612
- ExAC rs781367198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- MetaLR 0.60
- MetaSVM -0.54
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available