G27E (p.Gly27Glu) variant of SMAD2 (SMAD family member 2)
G27E (p.Gly27Glu) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- TOPMed rs1186363719
- gnomAD rs1186363719
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.34
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available