V13M (p.Val13Met) variant of LPL (Lipoprotein lipase)
V13M (p.Val13Met) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- ExAC rs751494597
- TOPMed rs751494597
- gnomAD rs751494597
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- MetaLR 0.48
- MetaSVM -0.63
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available