G17* (p.Gly17Ter) variant of SMAD3 (SMAD family member 3)
G17* (p.Gly17Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G17* (p.Gly17Ter) variant details
- p.Gly17Ter
- gnomAD 15-67098877-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 4.59
- Population evidence available
- Structural context available
- Literature evidence available