G86E (p.Gly86Glu) variant of SMAD2 (SMAD family member 2)
G86E (p.Gly86Glu) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G86E (p.Gly86Glu) variant details
- p.Gly86Glu
- Ensembl rs2144384717
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available