L17L (p.Leu17Leu) variant of SMAD4 (SMAD family member 4)
L17L (p.Leu17Leu) in SMAD4 (SMAD family member 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs1555684997
- gnomAD 18-51047095-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available