R14K (p.Arg14Lys) variant of SMAD3 (SMAD family member 3)
R14K (p.Arg14Lys) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- rs1328492403
- gnomAD 15-67098899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 4.76
- Population evidence available
- Structural context available
- Literature evidence available