S4A (p.Ser4Ala) variant of SDHAF2 (Q9NX18)
S4A (p.Ser4Ala) 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 0.31 / 1. The record also includes published literature and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- rs1205348193
- ClinGen CA380680124
- ClinVar RCV001348986
- TOPMed rs1205348193
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.05
- MetaLR 0.15
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.98
- 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)