L42F (p.Leu42Phe) variant of SMAD3 (SMAD family member 3)
L42F (p.Leu42Phe) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD rs1172150065
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.78
- CADD 24.80
- PolyPhen-2 0.52
- SIFT 0.01
- Population evidence available
- Structural context available