D79N (p.Asp79Asn) variant of ANGPTL3 (Angiopoietin-related protein 3)
D79N (p.Asp79Asn) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- ExAC rs767345973
- TOPMed rs767345973
- gnomAD rs767345973
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.25
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available