G17E (p.Gly17Glu) variant of SMAD3 (SMAD family member 3)
G17E (p.Gly17Glu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- rs1225150015
- gnomAD 15-67098878-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 8.71
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available