E28Q (p.Glu28Gln) variant of SMAD3 (SMAD family member 3)
E28Q (p.Glu28Gln) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 15-67066236-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.58
- CADD 27.20
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available