Y60* (p.Tyr60Ter) variant of TNXB (Tenascin-X)
Y60* (p.Tyr60Ter) in TNXB (Tenascin-X) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- gnomAD rs943965548
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 21.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available