Q35* (p.Gln35Ter) variant of APOL1 (Apolipoprotein L1)
Q35* (p.Gln35Ter) in APOL1 (Apolipoprotein L1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- ExAC rs746312873
- TOPMed rs746312873
- gnomAD rs746312873
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 25.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available