W18V (p.Trp18Val) variant of SMAD3 (SMAD family member 3)
W18V (p.Trp18Val) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
W18V (p.Trp18Val) variant details
- p.Trp18Val
- gnomAD 15-67098879-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.15
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available
- Literature evidence available