M4K (p.Met4Lys) variant of SMAD4 (SMAD family member 4)
M4K (p.Met4Lys) 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 0.72 / 1. The record also includes structural context.
M4K (p.Met4Lys) variant details
- p.Met4Lys
- Ensembl rs2144400196
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.76
- ESM-1b 0.32
- AlphaMissense 0.55
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available