E53* (p.Glu53Ter) variant of MYD88 (Q99836)
E53* (p.Glu53Ter) in MYD88 (Q99836) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs765198848
- ClinGen CA352128645
- ClinVar RCV001784687
- ExAC rs765198848
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.17
- MetaLR 0.38
- MetaSVM -0.45
- PolyPhen-2 0.04
- SIFT 0.57
- EVE 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. (PMID 20538326)