R36G (p.Arg36Gly) variant of SDHAF2 (Q9NX18)
R36G (p.Arg36Gly) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- rs1413272315
- ClinGen CA380683082
- ClinVar RCV000700909
- ClinVar RCV001017188
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.42
- MetaLR 0.33
- MetaSVM -0.50
- CADD 24.20
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)