Q23E (p.Gln23Glu) variant of SMAD3 (SMAD family member 3)
Q23E (p.Gln23Glu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- rs1961710497
- gnomAD 15-67138048-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 3.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available