T8T (p.Thr8Thr) variant of SMAD3 (SMAD family member 3)
T8T (p.Thr8Thr) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- gnomAD 15-67066178-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 9.73
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available