D59H (p.Asp59His) variant of ANGPTL3 (Angiopoietin-related protein 3)
D59H (p.Asp59His) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D59H (p.Asp59His) variant details
- p.Asp59His
- TOPMed rs1160109040
- gnomAD rs1160109040
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.41
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available