D42N (p.Asp42Asn) variant of ANGPTL3 (Angiopoietin-related protein 3)
D42N (p.Asp42Asn) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- ExAC rs199772471
- TOPMed rs199772471
- gnomAD rs199772471
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.37
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available