T8M (p.Thr8Met) variant of SMAD3 (SMAD family member 3)
T8M (p.Thr8Met) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs1172546213
- gnomAD 15-67138052-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- CADD 0.51
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available