F82C (p.Phe82Cys) variant of ANGPTL3 (Angiopoietin-related protein 3)
F82C (p.Phe82Cys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F82C (p.Phe82Cys) variant details
- p.Phe82Cys
- gnomAD rs1373030963
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.32
- CADD 27.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available