A50G (p.Ala50Gly) variant of LPL (Lipoprotein lipase)
A50G (p.Ala50Gly) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- rs148201569
- ClinGen CA4655325
- ClinVar RCV004527029
- ClinVar RCV004791689
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 20.20
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available