Y93* (p.Tyr93Ter) variant of ERCC3 (P19447)
Y93* (p.Tyr93Ter) in ERCC3 (P19447) 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 0.65 / 1. The record also includes population frequency data and structural context.
Y93* (p.Tyr93Ter) variant details
- p.Tyr93Ter
- ESP rs146938627
- ExAC rs146938627
- TOPMed rs146938627
- gnomAD rs146938627
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available