V39F (p.Val39Phe) variant of SMAD3 (SMAD family member 3)
V39F (p.Val39Phe) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V39F (p.Val39Phe) variant details
- p.Val39Phe
- gnomAD 15-67099003-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 4.90
- Population evidence available
- Structural context available
- Literature evidence available