G37S (p.Gly37Ser) variant of SDHAF2 (Q9NX18)
G37S (p.Gly37Ser) 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 0.60 / 1. The record also includes published literature and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- rs868016844
- ClinGen CA222877291
- ClinVar RCV003837688
- Ensembl rs868016844
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.40
- MetaLR 0.70
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- 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)