A15S (p.Ala15Ser) variant of SDHAF2 (Q9NX18)
A15S (p.Ala15Ser) 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 0.41 / 1. The record also includes published literature and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1002894711
- ClinGen CA222877253
- ClinVar RCV000639333
- Ensembl rs1002894711
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.10
- MetaLR 0.32
- MetaSVM -0.79
- PolyPhen-2 0.61
- SIFT 0.03
- MutPred 0.27
- 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)