R14G (p.Arg14Gly) variant of SMAD3 (SMAD family member 3)
R14G (p.Arg14Gly) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD 15-67098898-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 6.21
- Population evidence available
- Structural context available
- Literature evidence available