I11I (p.Ile11Ile) variant of SMAD3 (SMAD family member 3)
I11I (p.Ile11Ile) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I11I (p.Ile11Ile) variant details
- p.Ile11Ile
- rs750644348
- gnomAD 15-67066187-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 14.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available