E31G (p.Glu31Gly) variant of SMAD4 (SMAD family member 4)
E31G (p.Glu31Gly) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- gnomAD 18-51047138-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.50
- MetaSVM 0.04
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available