V6G (p.Val6Gly) variant of SDHAF2 (Q9NX18)
V6G (p.Val6Gly) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- rs1565125251
- ClinGen CA380680159
- ClinVar RCV003838940
- ClinVar RCV004366875
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.18
- MetaLR 0.36
- MetaSVM -0.76
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- 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)