G17G (p.Gly17Gly) variant of SMAD3 (SMAD family member 3)
G17G (p.Gly17Gly) in SMAD3 (SMAD family member 3) is a synonymous 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.
G17G (p.Gly17Gly) variant details
- p.Gly17Gly
- rs1960682532
- gnomAD 15-67098879-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available