A27S (p.Ala27Ser) variant of LPL (Lipoprotein lipase)
A27S (p.Ala27Ser) 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 0.36 / 1. The record also includes structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- rs1752693203
- ClinGen CA370464855
- ClinVar RCV002419154
- Ensembl rs1752693203
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.08
- MetaLR 0.31
- MetaSVM -0.73
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.58
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available