L42L (p.Leu42Leu) variant of SMAD3 (SMAD family member 3)
L42L (p.Leu42Leu) 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.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1595882137
- gnomAD 15-67066280-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 11.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available