V60I (p.Val60Ile) variant of LPL (Lipoprotein lipase)
V60I (p.Val60Ile) 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 0.19 / 1. The record also includes population frequency data and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- TOPMed rs887595131
- gnomAD rs887595131
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 5.47
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available