M4R (p.Met4Arg) variant of SMAD4 (SMAD family member 4)
M4R (p.Met4Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
M4R (p.Met4Arg) variant details
- p.Met4Arg
- Ensembl rs2144400196
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available