L38F (p.Leu38Phe) variant of SMAD3 (SMAD family member 3)
L38F (p.Leu38Phe) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- gnomAD 15-67098972-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.23
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available