E27E (p.Glu27Glu) variant of SMAD3 (SMAD family member 3)
E27E (p.Glu27Glu) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs755882401
- gnomAD 15-67066235-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available