G78R (p.Gly78Arg) variant of SDHAF2 (Q9NX18)
G78R (p.Gly78Arg) in SDHAF2 (Q9NX18) is a missense change. The available record places it in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- rs113560320
- ClinGen CA017320
- ClinVar RCV000000428
- ClinVar RCV000165971
- not provided
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: not provided (Pheochromocytoma/paraganglioma syndrome 2)
- EBI: Pathogenic (in PPGL2)
- UniProt: Pathogenic (in PPGL2)
- Structural context available
- Cited in: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. (PMID 19628817)
- Cited in: High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. (PMID 21348866)