L16L (p.Leu16Leu) variant of SMAD3 (SMAD family member 3)
L16L (p.Leu16Leu) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs886039210
- gnomAD 15-67066202-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 13.20
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available