D48V (p.Asp48Val) variant of LPL (Lipoprotein lipase)
D48V (p.Asp48Val) 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 0.59 / 1. The record also includes population frequency data and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- 1000Genomes rs367924602
- ESP rs367924602
- ExAC rs367924602
- TOPMed rs367924602
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available