E32E (p.Glu32Glu) variant of SMAD3 (SMAD family member 3)
E32E (p.Glu32Glu) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E32E (p.Glu32Glu) variant details
- p.Glu32Glu
- rs1450927153
- gnomAD 15-67066250-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available