E27* (p.Glu27Ter) variant of MECOM (Q03112)
E27* (p.Glu27Ter) in MECOM (Q03112) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs757020094
- ClinGen CA355192249
- ClinVar RCV001727275
- ExAC rs757020094
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.23
- SIFT 0.04
- MutPred 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance