A28V (p.Ala28Val) variant of LPL (Lipoprotein lipase)
A28V (p.Ala28Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- ExAC rs11570895
- gnomAD rs11570895
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- MetaLR 0.47
- MetaSVM -0.74
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00068)
- Structural context available