D70N (p.Asp70Asn) variant of ANGPTL3 (Angiopoietin-related protein 3)
D70N (p.Asp70Asn) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- ExAC rs745714568
- TOPMed rs745714568
- gnomAD rs745714568
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.34
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available