G555R (p.Gly555Arg) variant of SDHA (P31040)
G555R (p.Gly555Arg) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G555R (p.Gly555Arg) variant details
- p.Gly555Arg
- rs1392860800
- ClinGen CA358999003
- ClinVar RCV000703879
- ClinVar RCV002397470
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.89
- CADD 35.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Pathogenic (in MC2DN1 and CMD1GG)
- UniProt: Pathogenic (in MC2DN1 and CMD1GG)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)