T45T (p.Thr45Thr) variant of SMAD3 (SMAD family member 3)
T45T (p.Thr45Thr) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- rs778462473
- gnomAD 15-67066289-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available