S17C (p.Ser17Cys) variant of ANGPTL3 (Angiopoietin-related protein 3)
S17C (p.Ser17Cys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- ExAC rs758931786
- TOPMed rs758931786
- gnomAD rs758931786
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available