Q48* (p.Gln48Ter) variant of APOL1 (Apolipoprotein L1)
Q48* (p.Gln48Ter) in APOL1 (Apolipoprotein L1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- NCI-TCGA TCGA novel
- TOPMed rs2015918617
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 27.80
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available