A9T (p.Ala9Thr) variant of ANGPTL4 (Angiopoietin-related protein 4)
A9T (p.Ala9Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs1025526193
- ClinGen CA403712145
- ClinVar RCV004211204
- TOPMed rs1025526193
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- CADD 24.10
- PolyPhen-2 0.70
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available