W30* (p.Trp30Ter) variant of SMAD3 (SMAD family member 3)
W30* (p.Trp30Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
W30* (p.Trp30Ter) variant details
- p.Trp30Ter
- rs1487765616
- gnomAD 15-67164901-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 12.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available