Q23Q (p.Gln23Gln) variant of SMAD3 (SMAD family member 3)
Q23Q (p.Gln23Gln) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q23Q (p.Gln23Gln) variant details
- p.Gln23Gln
- rs1440086901
- gnomAD 15-67098927-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0853
- CADD 0.66
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available