Q60* (p.Gln60Ter) variant of SMC3 (Q9UQE7)
Q60* (p.Gln60Ter) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- gnomAD 10-110575383-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available