L23W (p.Leu23Trp) variant of SMAD4 (SMAD family member 4)
L23W (p.Leu23Trp) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
L23W (p.Leu23Trp) variant details
- p.Leu23Trp
- cosmic curated COSV61685
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.30
- CADD 31.00
- Structural context available