A38D (p.Ala38Asp) variant of ANGPTL3 (Angiopoietin-related protein 3)
A38D (p.Ala38Asp) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- TOPMed rs1267929323
- gnomAD rs1267929323
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.51
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available