I30W (p.Ile30Trp) variant of SMC3 (Q9UQE7)
I30W (p.Ile30Trp) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I30W (p.Ile30Trp) variant details
- p.Ile30Trp
- rs1230381435
- gnomAD 10-110569007-GTGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available