T64M (p.Thr64Met) variant of ANGPTL3 (Angiopoietin-related protein 3)
T64M (p.Thr64Met) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T64M (p.Thr64Met) variant details
- p.Thr64Met
- rs756641927
- ExAC rs756641927
- TOPMed rs756641927
- gnomAD rs756641927
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available