R14T (p.Arg14Thr) variant of SMAD3 (SMAD family member 3)
R14T (p.Arg14Thr) 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.
R14T (p.Arg14Thr) variant details
- p.Arg14Thr
- rs1960686549
- gnomAD 15-67098995-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 7.23
- Population evidence available
- Structural context available
- Literature evidence available