E27V (p.Glu27Val) variant of SMAD3 (SMAD family member 3)
E27V (p.Glu27Val) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- gnomAD 15-67098953-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 7.57
- Population evidence available
- Structural context available
- Literature evidence available