S30I (p.Ser30Ile) variant of ANGPTL3 (Angiopoietin-related protein 3)
S30I (p.Ser30Ile) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S30I (p.Ser30Ile) variant details
- p.Ser30Ile
- rs1557775870
- gnomAD 1-62597651-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available