R14W (p.Arg14Trp) variant of SMAD3 (SMAD family member 3)
R14W (p.Arg14Trp) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs868026656
- gnomAD 15-67138078-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- CADD 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available