S28C (p.Ser28Cys) variant of ANGPTL3 (Angiopoietin-related protein 3)
S28C (p.Ser28Cys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- gnomAD 1-62597649-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available