L5L (p.Leu5Leu) variant of SMAD3 (SMAD family member 3)
L5L (p.Leu5Leu) 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.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- gnomAD 15-67066167-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available