A12V (p.Ala12Val) variant of LPL (Lipoprotein lipase)
A12V (p.Ala12Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs758119828
- ClinGen CA4655262
- ClinVar RCV003085742
- ClinVar RCV003161704
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- MetaLR 0.40
- MetaSVM -0.40
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.51
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available