T8P (p.Thr8Pro) variant of SMAD3 (SMAD family member 3)
T8P (p.Thr8Pro) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- Ensembl rs2140188729
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.91
- CADD 27.80
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available