E22* (p.Glu22Ter) variant of SMAD3 (SMAD family member 3)
E22* (p.Glu22Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 15-67066218-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available