R14Q (p.Arg14Gln) variant of SMAD3 (SMAD family member 3)
R14Q (p.Arg14Gln) 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.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs746123640
- gnomAD 15-67138079-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- CADD 0.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available