V60L (p.Val60Leu) variant of LPL (Lipoprotein lipase)
V60L (p.Val60Leu) 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 specified. 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.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- rs887595131
- ClinGen CA370466943
- ClinVar RCV003324323
- TOPMed rs887595131
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available