F60C (p.Phe60Cys) variant of ANGPTL3 (Angiopoietin-related protein 3)
F60C (p.Phe60Cys) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- gnomAD 1-62597743-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available