D48Y (p.Asp48Tyr) variant of LPL (Lipoprotein lipase)
D48Y (p.Asp48Tyr) 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 0.52 / 1. The record also includes population frequency data and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- rs1015492279
- ClinGen CA173374841
- NCI-TCGA Cosmic COSV6093
- ClinVar RCV004522835
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 22.10
- PolyPhen-2 0.28
- SIFT 0.80
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available