I71T (p.Ile71Thr) variant of ANGPTL3 (Angiopoietin-related protein 3)
I71T (p.Ile71Thr) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- ExAC rs769753498
- TOPMed rs769753498
- gnomAD rs769753498
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.46
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available