L23M (p.Leu23Met) variant of SMAD4 (SMAD family member 4)
L23M (p.Leu23Met) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- Ensembl rs2144400672
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.53
- MetaSVM 0.06
- CADD 23.30
- Structural context available