I37V (p.Ile37Val) variant of LPL (Lipoprotein lipase)
I37V (p.Ile37Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs538543355
- 1000Genomes rs538543355
- ExAC rs538543355
- TOPMed rs538543355
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available