A9S (p.Ala9Ser) variant of ANGPTL4 (Angiopoietin-related protein 4)
A9S (p.Ala9Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- TOPMed rs1025526193
- gnomAD rs1025526193
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available