S289* (p.Ser289Ter) variant of SMC1A (Q14683)
S289* (p.Ser289Ter) in SMC1A (Q14683) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S289* (p.Ser289Ter) variant details
- p.Ser289Ter
- gnomAD X-53380638-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 8.62
- Population evidence available
- Structural context available
- Literature evidence available