V13L (p.Val13Leu) variant of LPL (Lipoprotein lipase)
V13L (p.Val13Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs751494597
- ClinGen CA4655264
- ClinVar RCV002355177
- ClinVar RCV003094369
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- MetaLR 0.35
- MetaSVM -0.74
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available