I80I (p.Ile80Ile) variant of SMC3 (Q9UQE7)
I80I (p.Ile80Ile) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I80I (p.Ile80Ile) variant details
- p.Ile80Ile
- gnomAD 10-110577462-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available