G21C (p.Gly21Cys) variant of SMAD3 (SMAD family member 3)
G21C (p.Gly21Cys) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- gnomAD 15-67066215-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.46
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available