Y2* (p.Tyr2Ter) variant of SMC3 (Q9UQE7)
Y2* (p.Tyr2Ter) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y2* (p.Tyr2Ter) variant details
- p.Tyr2Ter
- gnomAD 10-110567819-GTAC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 29.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available