Q27* (p.Gln27Ter) variant of SDHA (P31040)
Q27* (p.Gln27Ter) in SDHA (P31040) 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 0.38 / 1. The record also includes published literature and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs1734829878
- ClinGen CA359008093
- ClinVar RCV001385763
- ClinVar RCV002420861
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.39
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)