I8S (p.Ile8Ser) variant of SMC3 (Q9UQE7)
I8S (p.Ile8Ser) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I8S (p.Ile8Ser) variant details
- p.Ile8Ser
- gnomAD 10-110568941-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available