Q27E (p.Gln27Glu) variant of SDHA (P31040)
Q27E (p.Gln27Glu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- rs1734829878
- ClinGen CA359008092
- ClinVar RCV001039324
- Ensembl rs1734829878
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.90
- CADD 5.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)