G37C (p.Gly37Cys) variant of SDHAF2 (Q9NX18)
G37C (p.Gly37Cys) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- rs868016844
- ClinGen CA380683103
- ClinVar RCV000533916
- ClinVar RCV005268647
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.40
- MetaLR 0.70
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)