E33K (p.Glu33Lys) variant of SMAD4 (SMAD family member 4)
E33K (p.Glu33Lys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs2144400892
- ClinGen CA402457613
- cosmic curated COSV61686
- ClinVar RCV001764015
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.42
- CADD 32.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available