I4F (p.Ile4Phe) variant of SMAD3 (SMAD family member 3)
I4F (p.Ile4Phe) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- gnomAD rs1405891269
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.29
- SIFT 0.02
- Population evidence available
- Structural context available