E32A (p.Glu32Ala) variant of SMAD3 (SMAD family member 3)
E32A (p.Glu32Ala) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E32A (p.Glu32Ala) variant details
- p.Glu32Ala
- gnomAD rs1366150688
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.89
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available