C83* (p.Cys83Ter) variant of ABCG5 (Q9H222)
C83* (p.Cys83Ter) in ABCG5 (Q9H222) 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 0.57 / 1. The record also includes population frequency data and structural context.
C83* (p.Cys83Ter) variant details
- p.Cys83Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available