L38L (p.Leu38Leu) variant of SMAD3 (SMAD family member 3)
L38L (p.Leu38Leu) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L38L (p.Leu38Leu) variant details
- p.Leu38Leu
- rs770416788
- gnomAD 15-67066266-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available