E42* (p.Glu42Ter) variant of SDHD (O14521)
E42* (p.Glu42Ter) in SDHD (O14521) 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 0.43 / 1. The record also includes published literature and structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- rs756995021
- ClinGen CA382617034
- ClinVar RCV003177713
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.41
- PolyPhen-2 0.18
- SIFT 0.68
- EVE 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)