F7Y (p.Phe7Tyr) variant of SDHAF2 (Q9NX18)
F7Y (p.Phe7Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
F7Y (p.Phe7Tyr) variant details
- p.Phe7Tyr
- rs1311192006
- ClinGen CA380680168
- ClinVar RCV003634657
- Ensembl rs1311192006
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.16
- MetaLR 0.26
- MetaSVM -0.95
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)