L17M (p.Leu17Met) variant of SMAD4 (SMAD family member 4)
L17M (p.Leu17Met) 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 0.69 / 1. The record also includes structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- Ensembl rs1555684997
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.93
- MetaSVM 1.00
- CADD 23.20
- EBI: Benign
- UniProt: Benign
- Structural context available