Y43* (p.Tyr43Ter) variant of ABCC6 (O95255)
Y43* (p.Tyr43Ter) in ABCC6 (O95255) 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 0.75 / 1. The record also includes population frequency data and structural context.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- NCI-TCGA Cosmic COSV5274
- cosmic curated COSV52740
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available