V12F (p.Val12Phe) variant of SMAD3 (SMAD family member 3)
V12F (p.Val12Phe) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V12F (p.Val12Phe) variant details
- p.Val12Phe
- gnomAD 15-67098919-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- CADD 0.44
- Population evidence available
- Structural context available
- Literature evidence available