C21* (p.Cys21Ter) variant of IDS (Iduronate 2-sulfatase)
C21* (p.Cys21Ter) in IDS (Iduronate 2-sulfatase) 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 0.25 / 1. The record also includes population frequency data and structural context.
C21* (p.Cys21Ter) variant details
- p.Cys21Ter
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61712
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.30
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available