I19T (p.Ile19Thr) variant of ANGPTL3 (Angiopoietin-related protein 3)
I19T (p.Ile19Thr) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- gnomAD 1-62597622-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.07
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available