F7L (p.Phe7Leu) variant of SMAD3 (SMAD family member 3)
F7L (p.Phe7Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- gnomAD 15-67066175-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.67
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available