S2R (p.Ser2Arg) variant of ANGPTL4 (Angiopoietin-related protein 4)
S2R (p.Ser2Arg) in ANGPTL4 (Angiopoietin-related protein 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- rs1224422944
- gnomAD 19-8364326-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available