G17S (p.Gly17Ser) variant of SMAD3 (SMAD family member 3)
G17S (p.Gly17Ser) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- 1000Genomes rs183418982
- ExAC rs183418982
- TOPMed rs183418982
- gnomAD rs183418982
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.09
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available