G17D (p.Gly17Asp) variant of SMAD3 (SMAD family member 3)
G17D (p.Gly17Asp) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD 15-67138061-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.43
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available