Q28Q (p.Gln28Gln) variant of SMAD4 (SMAD family member 4)
Q28Q (p.Gln28Gln) in SMAD4 (SMAD family member 4) is a synonymous 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.
Q28Q (p.Gln28Gln) variant details
- p.Gln28Gln
- rs778465458
- gnomAD 18-51047130-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 12.70
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Literature evidence available