P6T (p.Pro6Thr) variant of SMAD3 (SMAD family member 3)
P6T (p.Pro6Thr) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 15-67066170-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.64
- CADD 23.30
- PolyPhen-2 0.49
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available