I45T (p.Ile45Thr) variant of ANGPTL3 (Angiopoietin-related protein 3)
I45T (p.Ile45Thr) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I45T (p.Ile45Thr) variant details
- p.Ile45Thr
- ExAC rs746743905
- gnomAD rs746743905
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.17
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available