C16W (p.Cys16Trp) variant of SMAD4 (SMAD family member 4)
C16W (p.Cys16Trp) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
C16W (p.Cys16Trp) variant details
- p.Cys16Trp
- Ensembl rs2144400522
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.04
- CADD 24.30
- Structural context available