Y14* (p.Tyr14Ter) variant of ERCC2 (P18074)
Y14* (p.Tyr14Ter) in ERCC2 (P18074) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y14* (p.Tyr14Ter) variant details
- p.Tyr14Ter
- ESP rs141622611
- TOPMed rs141622611
- gnomAD rs141622611
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 37.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available