V12V (p.Val12Val) variant of SMAD3 (SMAD family member 3)
V12V (p.Val12Val) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD 15-67066190-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available