D37Y (p.Asp37Tyr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D37Y (p.Asp37Tyr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. 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.
D37Y (p.Asp37Tyr) variant details
- p.Asp37Tyr
- TOPMed rs1360174848
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.22
- MetaSVM -0.75
- CADD 22.50
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available