R18K (p.Arg18Lys) variant of SDHAF2 (Q9NX18)
R18K (p.Arg18Lys) 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.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- rs1862009340
- ClinGen CA380682801
- ClinVar RCV001342533
- Ensembl rs1862009340
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.11
- MetaLR 0.29
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.08
- MutPred 0.22
- 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)