C16C (p.Cys16Cys) variant of SMAD4 (SMAD family member 4)
C16C (p.Cys16Cys) in SMAD4 (SMAD family member 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C16C (p.Cys16Cys) variant details
- p.Cys16Cys
- rs2144400522
- gnomAD 18-51047094-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available