S12R (p.Ser12Arg) variant of SDHA (P31040)
S12R (p.Ser12Arg) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- rs1734502045
- ClinGen CA359007346
- ClinVar RCV001036917
- Ensembl rs1734502045
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.09
- CADD 6.36
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5e-05)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)