D48G (p.Asp48Gly) variant of LPL (Lipoprotein lipase)
D48G (p.Asp48Gly) 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 0.61 / 1. The record also includes population frequency data and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- 1000Genomes rs367924602
- ESP rs367924602
- ExAC rs367924602
- TOPMed rs367924602
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 22.90
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available