S28F (p.Ser28Phe) variant of ANGPTL3 (Angiopoietin-related protein 3)
S28F (p.Ser28Phe) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- gnomAD rs1165491527
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- CADD 23.30
- PolyPhen-2 0.47
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available