V43A (p.Val43Ala) variant of ANGPTL3 (Angiopoietin-related protein 3)
V43A (p.Val43Ala) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- gnomAD 1-62597694-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.54
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available