D87Y (p.Asp87Tyr) variant of LCAT (P04180)
D87Y (p.Asp87Tyr) in LCAT (P04180) 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 0.71 / 1. The record also includes population frequency data and structural context.
D87Y (p.Asp87Tyr) variant details
- p.Asp87Tyr
- rs2544407421
- ClinGen CA396381575
- ClinVar RCV002426208
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.79
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available