S2* (p.Ser2Ter) variant of SDHA (P31040)
S2* (p.Ser2Ter) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- rs780064103
- ClinGen CA359007241
- ClinVar RCV000797937
- ExAC rs780064103
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)