T8I (p.Thr8Ile) variant of SMAD3 (SMAD family member 3)
T8I (p.Thr8Ile) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD 15-67066177-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.82
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available