Y21* (p.Tyr21Ter) variant of CRB1 (Protein crumbs homolog 1)
Y21* (p.Tyr21Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y21* (p.Tyr21Ter) variant details
- p.Tyr21Ter
- rs1654722291
- ClinGen CA344082546
- ClinVar RCV001091026
- TOPMed rs1654722291
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available