C25F (p.Cys25Phe) variant of SMAD4 (SMAD family member 4)
C25F (p.Cys25Phe) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- gnomAD 18-51047120-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.65
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available