L5M (p.Leu5Met) variant of SMAD3 (SMAD family member 3)
L5M (p.Leu5Met) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 15-67066167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.65
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available