F37C (p.Phe37Cys) variant of ANGPTL3 (Angiopoietin-related protein 3)
F37C (p.Phe37Cys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F37C (p.Phe37Cys) variant details
- p.Phe37Cys
- gnomAD 1-62597676-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.58
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available