S30Y (p.Ser30Tyr) variant of ANGPTL4 (Angiopoietin-related protein 4)
S30Y (p.Ser30Tyr) in ANGPTL4 (Angiopoietin-related protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- rs2512701362
- ClinGen CA403712783
- ClinVar RCV004183014
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.13
- CADD 18.70
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available