D22E (p.Asp22Glu) variant of ANGPTL3 (Angiopoietin-related protein 3)
D22E (p.Asp22Glu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- gnomAD 1-62597632-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0552
- REVEL 0.05
- CADD 1.74
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available