C25W (p.Cys25Trp) variant of SMAD4 (SMAD family member 4)
C25W (p.Cys25Trp) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
C25W (p.Cys25Trp) variant details
- p.Cys25Trp
- Ensembl rs1555685008
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM -0.11
- CADD 24.90
- EBI: Benign
- UniProt: Benign
- Structural context available