G24E (p.Gly24Glu) variant of SMAD2 (SMAD family member 2)
G24E (p.Gly24Glu) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- Ensembl rs2144475059
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.41
- CADD 24.80
- PolyPhen-2 0.82
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available