L38I (p.Leu38Ile) variant of SMAD3 (SMAD family member 3)
L38I (p.Leu38Ile) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- gnomAD 15-67098958-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.15
- Population evidence available
- Structural context available
- Literature evidence available